PubMed:1679030 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1679030-3#82#94#geners5030841","span":{"begin":632,"end":644},"obj":"geners5030841"},{"id":"1679030-3#123#126#diseaseC0031485","span":{"begin":673,"end":676},"obj":"diseaseC0031485"},{"id":"1679030-3#181#184#diseaseC0031485","span":{"begin":731,"end":734},"obj":"diseaseC0031485"}],"relations":[{"id":"82#94#geners5030841123#126#diseaseC0031485","pred":"associated_with","subj":"1679030-3#82#94#geners5030841","obj":"1679030-3#123#126#diseaseC0031485"},{"id":"82#94#geners5030841181#184#diseaseC0031485","pred":"associated_with","subj":"1679030-3#82#94#geners5030841","obj":"1679030-3#181#184#diseaseC0031485"}],"text":"The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.\nDNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mutant haplotype 3 allele and the Glu221----Gly amino acid substitution with the mutant haplotype 4 allele of this family. Allele-specific oligonucleotide (ASO) dot-blot analysis subsequently detected the Leu48----Ser mutation in the haplotype 4 PKU alleles of nine (18.8%) of the 48 unrelated Caucasian PKU families investigated. This mutation results in mild PKU in the homozygous state. The Glu221----Gly mutation has only been detected within patient E1 and his father."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":53,"end":56},"obj":"gene:5053"},{"id":"T1","span":{"begin":94,"end":109},"obj":"disease:C0031485"},{"id":"T2","span":{"begin":53,"end":56},"obj":"gene:5053"},{"id":"T3","span":{"begin":94,"end":109},"obj":"disease:C0751434"},{"id":"T4","span":{"begin":183,"end":208},"obj":"gene:5053"},{"id":"T5","span":{"begin":339,"end":359},"obj":"disease:C0751434"},{"id":"T6","span":{"begin":183,"end":208},"obj":"gene:5053"},{"id":"T7","span":{"begin":339,"end":359},"obj":"disease:C0031485"},{"id":"T8","span":{"begin":210,"end":213},"obj":"gene:5053"},{"id":"T9","span":{"begin":339,"end":359},"obj":"disease:C0031485"},{"id":"T10","span":{"begin":210,"end":213},"obj":"gene:5053"},{"id":"T11","span":{"begin":339,"end":359},"obj":"disease:C0751434"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.\nDNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mutant haplotype 3 allele and the Glu221----Gly amino acid substitution with the mutant haplotype 4 allele of this family. Allele-specific oligonucleotide (ASO) dot-blot analysis subsequently detected the Leu48----Ser mutation in the haplotype 4 PKU alleles of nine (18.8%) of the 48 unrelated Caucasian PKU families investigated. This mutation results in mild PKU in the homozygous state. The Glu221----Gly mutation has only been detected within patient E1 and his father."}