Article
Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
Journal of thrombosis and haemostasis : JTH - 1 Sept 2010
Castaman G, Giacomelli S H, Jacobi P, Obser T, Budde U, Rodeghiero F, Haberichter S L, Schneppenheim R
Abstract excerpt
BACKGROUND: von Willebrand disease (VWD) type Normandy (VWD 2N) is caused by mutations at the factor (F)VIII-binding site of von Willebrand factor (VWF), located in the D'and D3 domains on the N-terminus of mature VWF. The R854Q mutation is the most frequent cause of this phenotype. OBJECTIVES: We report the characterization of a homozygous VWD 2N mutation, R854W, detected in a patient with a severe VWD...
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