Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Abstract

Von Willebrand disease (VWD) is an inherited bleeding disorder characterized by incomplete penetrance and variable expressivity. We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-binding A1 domain of von Willebrand factor (VWF). This mutation… (More)
DOI: 10.1182/blood-2014-11-613935

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