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Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene

✍ Scribed by Janine Genschel; Grit Sommer; Regina Haas; Carsten Buettner; Bettina Bochow; Michael Manns; Herbert Lochs; Hartmut H.-J. Schmidt

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
10 KB
Volume
16
Category
Article
ISSN
1059-7794

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von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF). A large number of defects that cause qualitative variants have been located in the A1 domain of the vWF, which