PubMed:9222760 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"9222760-1#66#71#geners75391579","span":{"begin":190,"end":195},"obj":"geners75391579"},{"id":"9222760-1#0#22#diseaseC0268151","span":{"begin":124,"end":146},"obj":"diseaseC0268151"},{"id":"9222760-9#86#91#geners111033773","span":{"begin":1179,"end":1184},"obj":"geners111033773"},{"id":"9222760-9#39#51#diseaseC0016952","span":{"begin":1132,"end":1144},"obj":"diseaseC0016952"},{"id":"9222760-9#39#51#diseaseC0268151","span":{"begin":1132,"end":1144},"obj":"diseaseC0268151"},{"id":"9222760-9#111#123#diseaseC0016952","span":{"begin":1204,"end":1216},"obj":"diseaseC0016952"},{"id":"9222760-9#111#123#diseaseC0268151","span":{"begin":1204,"end":1216},"obj":"diseaseC0268151"}],"relations":[{"id":"66#71#geners753915790#22#diseaseC0268151","pred":"associated_with","subj":"9222760-1#66#71#geners75391579","obj":"9222760-1#0#22#diseaseC0268151"},{"id":"86#91#geners11103377339#51#diseaseC0016952","pred":"associated_with","subj":"9222760-9#86#91#geners111033773","obj":"9222760-9#39#51#diseaseC0016952"},{"id":"86#91#geners11103377339#51#diseaseC0268151","pred":"associated_with","subj":"9222760-9#86#91#geners111033773","obj":"9222760-9#39#51#diseaseC0268151"},{"id":"86#91#geners111033773111#123#diseaseC0016952","pred":"associated_with","subj":"9222760-9#86#91#geners111033773","obj":"9222760-9#111#123#diseaseC0016952"},{"id":"86#91#geners111033773111#123#diseaseC0268151","pred":"associated_with","subj":"9222760-9#86#91#geners111033773","obj":"9222760-9#111#123#diseaseC0268151"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9222760-1#151#155#gene2592","span":{"begin":275,"end":279},"obj":"gene2592"},{"id":"9222760-1#0#22#diseaseC0268151","span":{"begin":124,"end":146},"obj":"diseaseC0268151"}],"relations":[{"id":"151#155#gene25920#22#diseaseC0268151","pred":"associated_with","subj":"9222760-1#151#155#gene2592","obj":"9222760-1#0#22#diseaseC0268151"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention:D005693"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease:D005693"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention:D005693"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease:D005693"},{"id":"T5","span":{"begin":809,"end":821},"obj":"Modifier:D005693"},{"id":"T6","span":{"begin":920,"end":932},"obj":"Modifier:D005693"},{"id":"T7","span":{"begin":1132,"end":1144},"obj":"SpecificDisease:D005693"},{"id":"T8","span":{"begin":1204,"end":1216},"obj":"Modifier:D005693"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gpt-nr-ng","denotations":[{"id":"T1","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T3","span":{"begin":1132,"end":1144},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":1204,"end":1216},"obj":"DiseaseClass"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":544},"obj":"CompositeMention"},{"id":"T4","span":{"begin":544,"end":563},"obj":"CompositeMention"},{"id":"T5","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":809,"end":821},"obj":"Modifier"},{"id":"T7","span":{"begin":920,"end":932},"obj":"Modifier"},{"id":"T8","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1204,"end":1216},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gpt-nr-g","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gemini-r-g","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":809,"end":821},"obj":"Modifier"},{"id":"T6","span":{"begin":920,"end":932},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1132,"end":1144},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gpt-r-g","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":799,"end":821},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":920,"end":932},"obj":"Modifier"},{"id":"T7","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1204,"end":1216},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gpt-r-ng","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T4","span":{"begin":799,"end":821},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1204,"end":1216},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gemini-nr-ng","denotations":[{"id":"T1","span":{"begin":41,"end":60},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":544,"end":563},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":809,"end":821},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":920,"end":942},"obj":"CompositeMention"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gemini-nr-g","denotations":[{"id":"T1","span":{"begin":41,"end":60},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":171,"end":188},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":217,"end":226},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T6","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":920,"end":942},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-deepseek-nr-ng","denotations":[{"id":"T1","span":{"begin":0,"end":9},"obj":"Modifier"},{"id":"T2","span":{"begin":10,"end":23},"obj":"Modifier"},{"id":"T3","span":{"begin":27,"end":36},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":41,"end":60},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":62,"end":79},"obj":"Modifier"},{"id":"T6","span":{"begin":83,"end":122},"obj":"Modifier"},{"id":"T7","span":{"begin":124,"end":133},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":134,"end":146},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":190,"end":195},"obj":"Modifier"},{"id":"T10","span":{"begin":234,"end":245},"obj":"Modifier"},{"id":"T11","span":{"begin":246,"end":255},"obj":"Modifier"},{"id":"T12","span":{"begin":256,"end":273},"obj":"Modifier"},{"id":"T13","span":{"begin":275,"end":279},"obj":"Modifier"},{"id":"T14","span":{"begin":324,"end":338},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":361,"end":369},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":371,"end":374},"obj":"SpecificDisease"},{"id":"T17","span":{"begin":380,"end":388},"obj":"SpecificDisease"},{"id":"T18","span":{"begin":390,"end":393},"obj":"SpecificDisease"},{"id":"T19","span":{"begin":436,"end":441},"obj":"Modifier"},{"id":"T20","span":{"begin":480,"end":484},"obj":"Modifier"},{"id":"T21","span":{"begin":508,"end":517},"obj":"Modifier"},{"id":"T22","span":{"begin":518,"end":526},"obj":"Modifier"},{"id":"T23","span":{"begin":530,"end":539},"obj":"DiseaseClass"},{"id":"T24","span":{"begin":544,"end":563},"obj":"SpecificDisease"},{"id":"T25","span":{"begin":616,"end":625},"obj":"DiseaseClass"},{"id":"T26","span":{"begin":626,"end":638},"obj":"SpecificDisease"},{"id":"T27","span":{"begin":664,"end":667},"obj":"SpecificDisease"},{"id":"T28","span":{"begin":710,"end":713},"obj":"SpecificDisease"},{"id":"T29","span":{"begin":724,"end":763},"obj":"Modifier"},{"id":"T30","span":{"begin":765,"end":769},"obj":"Modifier"},{"id":"T31","span":{"begin":786,"end":788},"obj":"Modifier"},{"id":"T32","span":{"begin":796,"end":798},"obj":"Modifier"},{"id":"T33","span":{"begin":809,"end":821},"obj":"SpecificDisease"},{"id":"T34","span":{"begin":831,"end":836},"obj":"Modifier"},{"id":"T35","span":{"begin":856,"end":861},"obj":"Modifier"},{"id":"T36","span":{"begin":920,"end":932},"obj":"SpecificDisease"},{"id":"T37","span":{"begin":962,"end":965},"obj":"SpecificDisease"},{"id":"T38","span":{"begin":974,"end":979},"obj":"Modifier"},{"id":"T39","span":{"begin":1039,"end":1042},"obj":"SpecificDisease"},{"id":"T40","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-deepseek-nr-g","denotations":[{"id":"T1","span":{"begin":41,"end":60},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":324,"end":338},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":361,"end":369},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":380,"end":388},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":544,"end":563},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":664,"end":675},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":710,"end":720},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":962,"end":973},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1039,"end":1050},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-deepseek-r-ng","denotations":[{"id":"T1","span":{"begin":27,"end":36},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":41,"end":47},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":48,"end":60},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":134,"end":146},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":164,"end":170},"obj":"Modifier"},{"id":"T6","span":{"begin":171,"end":179},"obj":"Modifier"},{"id":"T7","span":{"begin":212,"end":216},"obj":"Modifier"},{"id":"T8","span":{"begin":296,"end":302},"obj":"Modifier"},{"id":"T9","span":{"begin":324,"end":330},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":551,"end":563},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":626,"end":638},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":904,"end":909},"obj":"Modifier"},{"id":"T13","span":{"begin":1065,"end":1072},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-deepseek-r-g","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":324,"end":338},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T5","span":{"begin":616,"end":638},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gemini-r-ng","denotations":[{"id":"T1","span":{"begin":41,"end":60},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":544,"end":563},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":809,"end":821},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":920,"end":932},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gemini-r-m","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":809,"end":821},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-gpt-r-m","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":799,"end":821},"obj":"Modifier"},{"id":"T6","span":{"begin":920,"end":932},"obj":"Modifier"},{"id":"T7","span":{"begin":1132,"end":1144},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":1204,"end":1216},"obj":"Modifier"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"ncbi-valid-deepseek-r-m","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T4","span":{"begin":616,"end":638},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBI-Disease-Develop","denotations":[{"id":"T269","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T270","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T271","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T272","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T273","span":{"begin":809,"end":821},"obj":"Modifier"},{"id":"T274","span":{"begin":920,"end":932},"obj":"Modifier"},{"id":"T275","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T276","span":{"begin":1204,"end":1216},"obj":"Modifier"}],"attributes":[{"id":"A269","pred":"database_id","subj":"T269","obj":"D005693"},{"id":"A270","pred":"database_id","subj":"T270","obj":"D005693"},{"id":"A271","pred":"database_id","subj":"T271","obj":"D005693"},{"id":"A272","pred":"database_id","subj":"T272","obj":"D005693"},{"id":"A273","pred":"database_id","subj":"T273","obj":"D005693"},{"id":"A274","pred":"database_id","subj":"T274","obj":"D005693"},{"id":"A275","pred":"database_id","subj":"T275","obj":"D005693"},{"id":"A276","pred":"database_id","subj":"T276","obj":"D005693"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T269","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T270","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T271","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T272","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T273","span":{"begin":809,"end":821},"obj":"Modifier"},{"id":"T274","span":{"begin":920,"end":932},"obj":"Modifier"},{"id":"T275","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T276","span":{"begin":1204,"end":1216},"obj":"Modifier"}],"attributes":[{"id":"A269","pred":"database_id","subj":"T269","obj":"D005693"},{"id":"A270","pred":"database_id","subj":"T270","obj":"D005693"},{"id":"A271","pred":"database_id","subj":"T271","obj":"D005693"},{"id":"A272","pred":"database_id","subj":"T272","obj":"D005693"},{"id":"A273","pred":"database_id","subj":"T273","obj":"D005693"},{"id":"A274","pred":"database_id","subj":"T274","obj":"D005693"},{"id":"A275","pred":"database_id","subj":"T275","obj":"D005693"},{"id":"A276","pred":"database_id","subj":"T276","obj":"D005693"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":27,"end":932},"obj":"CompositeMention"},{"id":"T11","span":{"begin":1204,"end":1216},"obj":"DiseaseClass"},{"id":"T12","span":{"begin":962,"end":973},"obj":"Modifier"},{"id":"T13","span":{"begin":1039,"end":1050},"obj":"Modifier"},{"id":"T14","span":{"begin":1132,"end":1144},"obj":"DiseaseClass"},{"id":"T15","span":{"begin":1204,"end":1216},"obj":"DiseaseClass"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":27,"end":932},"obj":"CompositeMention"},{"id":"T11","span":{"begin":1204,"end":1216},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":962,"end":965},"obj":"Modifier"},{"id":"T13","span":{"begin":1039,"end":1042},"obj":"Modifier"},{"id":"T14","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1204,"end":1216},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":27,"end":821},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":915,"end":932},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":962,"end":973},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1039,"end":1050},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T17","span":{"begin":1204,"end":1225},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":27,"end":60},"obj":"CompositeMention"},{"id":"T2","span":{"begin":124,"end":146},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":234,"end":280},"obj":"Modifier"},{"id":"T4","span":{"begin":320,"end":338},"obj":"CompositeMention"},{"id":"T5","span":{"begin":361,"end":375},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":380,"end":394},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":530,"end":563},"obj":"CompositeMention"},{"id":"T8","span":{"begin":616,"end":638},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":664,"end":675},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":710,"end":720},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":799,"end":821},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":920,"end":932},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1132,"end":1144},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1204,"end":1216},"obj":"SpecificDisease"}],"text":"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.\nClassical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population."}