von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

N Hickson; D Hampshire; P Winship; J Goudemand; R Schneppenheim; U Budde; G Castaman; F Rodeghiero; A B Federici; P James; I Peake; J Eikenboom; A Goodeve; MCMDM-1VWD and ZPMCB-VWD study groups

doi:10.1111/j.1538-7836.2010.03927.x

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

N Hickson
D Hampshire
P Winship
J Goudemand
R Schneppenheim
U Budde
G Castaman
F Rodeghiero
A B Federici
P James
I Peake
J Eikenboom
A Goodeve
MCMDM-1VWD and ZPMCB-VWD study groups

Related Research units

Department of Pediatric Hematology and Oncology

Abstract

von Willebrand factor (VWF) variant c.2771G>A; p.R924Q has been described as a benign polymorphism or a possible marker for a null allele and been associated with mild bleeding phenotypes. It was identified in several patients in recent type 1 von Willebrand disease (VWD) studies.

Bibliographical data

Original language	English
Article number	9
ISSN	1538-7933
DOIs	https://doi.org/10.1111/j.1538-7836.2010.03927.x
Publication status	Published - 09.2010