von Willebrand Factor Variant p.Arg924Gln Marks an Allele Associated with Reduced von Willebrand Factor and Factor VIII Levels

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. OBJ...

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Main Authors: HICKSON, N., HAMPSHIRE, D., WINSHIP, P., GOUDEMAND, J., SCHNEPPENHEIM, R., BUDDE, U., CASTAMAN, G., RODEGHIERO, F., FEDERICI, AB., JAMES, P., PEAKE, I., EIKENBOOM, J., GOODEVE, A.
Format: Artigo
Language:Inglês
Published: 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3856360/
https://ncbi.nlm.nih.gov/pubmed/20492463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1538-7836.2010.03927.x
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