Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Research Abstract Details 

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Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Abstract Text:

F Xie,X Wang,D N Cooper,F Lan,Y Fang,X Cai,Z Wang,H Wang,F Xie,X Wang,D N Cooper,F Lan,Y Fang,X Cai,Z Wang,H Wang,

A 23-year-old Chinese woman with severe von Willebrand factor (VWF) deficiency and her parents were investigated by PCR/direct sequencing of the VWF gene. The patient was found to be compound heterozygous for two novel null mutations. The first was a microinsertion in exon 8 (1203insG) that introduced a frameshift at codon 298 leading to premature translational termination at codon 302. The second was a C to A transversion in exon 28 which resulted in the replacement of tyrosine 562 by a stop codon (Y1456X). The failure to amplify VWF cDNA from the patient by semi-nested PCR is consistent with the induction of nonsense-mediated mRNA decay.

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Publishing Authors By Initials

F Xie,X Wang,DN Cooper,F Lan,Y Fang,X Cai,Z Wang,H Wang,F Xie,X Wang,DN Cooper,F Lan,Y Fang,X Cai,Z Wang,H Wang,

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Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Haemophilia : the official journal of the World Fe

VOLUME: 13

Page Numbers: 645-8

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ISSN: 1351-8216

DAY: 20

MONTH: Sep

YEAR: 2007

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Information

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LANGUAGE: eng

NlmUniqueID: 9442916

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Grant and Affiliation Information for Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.

AFFILIATION: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University, Shanghai, China. topxiefei@126.com

Country: England

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MEDLINETA: Haemophilia

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