Article
Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2008
Baronciani L, Federici A B, Cozzi G, La Marca S, Punzo M, Rubini V, Canciani M T, Mannucci P M
Abstract excerpt
Missense mutations are not considered a common cause of type 3 von Willebrand's disease (VWD), the most severe defect of von Willebrand factor (VWF) characterized by undetectable levels of this protein in plasma and platelets. Nevertheless, several missense mutations have been identified in these patients. In this study, we report the cases of two Italian patients with type 3 VWD, both compound heterozygotes for...
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