PubMed:10102532 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":0,"end":22},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":120,"end":142},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":144,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1036,"end":1042},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1046,"end":1068},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0019565"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"0024574"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0019565"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"0024574"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0019565"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0008568"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0019565"},{"id":"A8","pred":"mondo_id","subj":"T7","obj":"0024574"}],"text":"von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.\nA 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies. The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma. An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced. We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln. Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed. We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":73},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":74,"end":234},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":235,"end":527},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":528,"end":638},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":639,"end":777},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":778,"end":903},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":904,"end":1069},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":73},"obj":"Sentence"},{"id":"T2","span":{"begin":74,"end":234},"obj":"Sentence"},{"id":"T3","span":{"begin":235,"end":527},"obj":"Sentence"},{"id":"T4","span":{"begin":528,"end":638},"obj":"Sentence"},{"id":"T5","span":{"begin":639,"end":777},"obj":"Sentence"},{"id":"T6","span":{"begin":778,"end":903},"obj":"Sentence"},{"id":"T7","span":{"begin":904,"end":1069},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.\nA 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies. The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma. An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced. We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln. Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed. We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":22},"obj":"ORDO:903"},{"id":"AB1","span":{"begin":120,"end":142},"obj":"ORDO:903"},{"id":"AB2","span":{"begin":1046,"end":1068},"obj":"ORDO:903"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.\nA 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies. The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma. An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced. We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln. Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed. We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1002,"end":1005},"obj":"gene:7450"},{"id":"T1","span":{"begin":1046,"end":1068},"obj":"disease:C0042974"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.\nA 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies. The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma. An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced. We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln. Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed. We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease."}