Article
A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease.
Thrombosis and haemostasis - 30 Nov 2016
Lavenu-Bombled Cécile, Guitton Corinne, Dupuis Arnaud, Baas Marie-Jeanne, Desconclois Céline, Dreyfus Marie, Li Renhao, Caron Claudine, Gachet Christian, Fressinaud Edith, Lanza François
Abstract excerpt
Interaction between von Willebrand factor (VWF) and platelet GPIbα is required for primary haemostasis. Lack or loss-of-function in the ligand-receptor pair results in bleeding complications. Paradoxically, gain-of-function mutations in VWF or GPIbα also result in bleeding complications as observed in type 2B von Willebrand disease (VWD) and platelet-type- (PT-) VWD, respectively. A similar phenotype is observed...
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