Published in
American Society of Hematology, Blood Advances, 13(2), p. 1585-1594, 2018
DOI: 10.1182/bloodadvances.2017011643
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The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance
Journal article published in 2018 by
Ahmad H. Mufti,
Kenichi Ogiwara,
Laura L. Swystun 
,
Jeroen C. J. Eikenboom ,
Ulrich Budde,
Wilma M. Hopman,
Christer Halldén ,
Jenny Goudemand,
Ian R. Peake,
Anne C. Goodeve ,
David Lillicrap,
Daniel J. Hampshire
,
Jeroen C. J. Eikenboom ,
Ulrich Budde,
Wilma M. Hopman,
Christer Halldén ,
Jenny Goudemand,
Ian R. Peake,
Anne C. Goodeve ,
David Lillicrap,
Daniel J. Hampshire
This paper is made freely available by the publisher.
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Abstract
Key Points VWF variants c.2365A>G and c.2385T>C independently influence VWF biosynthesis and clearance, increasing VWF plasma levels. Commonly inherited VWF variants can directly influence the protein and may contribute to hemostatic and thrombotic disease risk/severity.