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- W2079572248 abstract "European Journal of Human Genetics (2011) 19; doi:10.1038/ejhg.2010.222; published online 5 January 20111. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)von Willebrand disease (VWD).1.2 OMIM# of the disease193400.1.3 Name of the analysed genes or DNA/chromosome segmentsvon Willebrand factor (VWF).1.4 OMIM# of the gene(s)193400.1.5 Mutational spectrumVWD, the most common inherited bleeding disorder in humans, is aheterogeneousdisordercausedbyapartialquantitative(type1VWD),qualitative (type 2 VWD) or severe quantitative (type 3 VWD)deficiency of von Willebrand factor protein (VWF). VWF has acentral role in primary haemostasis, in which it functions at sites ofvascular injury in an adhesive matrix between platelets and sub-endothelial components. VWF also functions as a carrier for coagula-tion factor VIII (FVIII) in the circulation, protecting FVIII fromproteolytic degradation and localising it to the site of vascular injury.The VWF gene (VWF) is located at the short arm of chromosome 12(12p13.2). It is a large gene comprising B178kb of genomic DNA,including 52 exons varying in size from 40 to 1379 bases." @default.
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- W2079572248 date "2011-01-05" @default.
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- W2079572248 title "Clinical utility gene card for: von Willebrand disease" @default.
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- W2079572248 doi "https://doi.org/10.1038/ejhg.2010.222" @default.
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