Article
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.
European journal of haematology - 1 Jul 1993
Donnér M, Kristoffersson A C, Berntorp E, Scheibel E, Thorsen S, Dahlbäck B, Nilsson I M, Holmberg L
Abstract excerpt
Recently, several von Willebrand factor gene mutations resulting in type IIA von Willebrand's disease have been reported. We examined 8 patients from Sweden and Denmark with this phenotype and found two new candidate mutations and a hitherto unknown amino acid polymorphism. One patient had a de novo occurring mutation resulting in substitution of glycine for arginine 834. Previous reports have demonstrated...
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