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Article

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.

Blood advances - 10 Jul 2018

Mufti Ahmad H, Ogiwara Kenichi, Swystun Laura L, Eikenboom Jeroen C J, Budde Ulrich, Hopman Wilma M, Halldén Christer, Goudemand Jenny, Peake Ian R, Goodeve Anne C, Lillicrap David, Hampshire Daniel J

Abstract excerpt

Plasma levels of von Willebrand factor (VWF) vary considerably in the general population and this variation has been linked to several genetic and environmental factors. Genetic factors include 2 common single nucleotide variants (SNVs) located in VWF, rs1063856 (c.2365A>G) and rs1063857 (c.2385T>C), although to date the mechanistic basis for their association with VWF level is unknown. Using genotypic/phenotypic...

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Identifiers

PMID: 29980574
DOI: 10.1182/bloodadvances.2017011643
PMCID: PMC6039659

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VWF

Variants

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