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Article

Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal of thrombosis and haemostasis : JTH - 1 Feb 2013

Wang Q Y, Song J, Gibbs R A, Boerwinkle E, Dong J F, Yu F L

Abstract excerpt

BACKGROUND: The von Willebrand factor (VWF) gene is highly polymorphic, with variants correlated with VWF antigen levels, adhesion activity, clearance and factor VIII binding. VWF mutations are detected in patients with von Willebrand disease (VWD), whereas polymorphic variants could be associated with thrombosis. However, information on the ethnic diversity of VWF variants and their association with diseases is...

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Identifiers

PMID: 23216583
DOI: 10.1111/jth.12093
PMCID: PMC3570679

Genes

VWF

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