Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels
(2010)
Journal Article
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. (2010). 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, 8(9), 1986-1993. https://doi.org/10.1111/j.1538-7836.2010.03927.x
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 t... Read More about Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.