Article
von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Journal of thrombosis and haemostasis : JTH - 1 Sept 2010
Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici A B, James P, Peake I, Eikenboom J, Goodeve A
Abstract excerpt
BACKGROUND: 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. OBJECTIVES: To determine whether the p.R924Q allele contributes to reduced VWF levels and type 1 VWD. METHODS: One...
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