Article
Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights.
British journal of haematology - 1 Oct 2006
Lester William A, Guilliatt Andrea M, Surdhar Gurcharan K, Enayat Said M, Wilde Jonathan T, Willoughby Sara, Grundy Pam, Cumming Anthony M, Collins Peter W, Hill Frank G H
Abstract excerpt
von Willebrand disease (VWD) caused by the R1205H mutation has distinct and reproducible clinical and laboratory features. This report describes the phenotypic and molecular investigation of seven kindreds with VWD Vicenza R1205H. All affected individuals have historically been diagnosed with moderate to severe type 1 VWD. Amongst all families with highly penetrant type 1 VWD investigated at our centre,...
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