Article
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2015
van Meegeren M E R, Mancini T L, Schoormans S C M, van Haren B J T, van Duren C, Diekstra A, Laros-van Gorkom B A P, Brons P P T, Simons A, Hoefsloot L, van Heerde W L
Abstract excerpt
INTRODUCTION: Von Willebrand disease (VWD) type 2N is characterized by a defective binding of factor VIII (FVIII) to von Willebrand factor (VWF) resulting in diminished plasma FVIII levels and a clinical phenotype mimicking mild haemophilia A. Several mutations in the FVIII binding site of VWF have been reported. AIM: This study aims to examine the effect of genotype on clinical phenotype in a cohort of VWD 2N...
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