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.

Abstract

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… (More)

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@article{Donnr1993TwoNC, title={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.}, author={Mikael Donn{\'e}r and A C Kristoffersson and E Berntorp and Elma Scheibel and Sixtus Thorsen and Bj{\"{o}rn Dahlb{\"a}ck and Inga Marie Nilsson and Lars H Holmberg}, journal={European journal of haematology}, year={1993}, volume={51 1}, pages={38-44} }