Article
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2013
Lotta L A, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti S M, Pappalardo E, Valsecchi C, Scherer S E, Hale W, Muzny D M, Randi G, Rosendaal F R, Gibbs R A, Peyvandi F
Abstract excerpt
BACKGROUND: The considerable genetic predisposition to deep vein thrombosis (DVT) is only partially accounted for by known genetic risk variants. Rare single-nucleotide variants (SNVs) of the coding areas of hemostatic genes may explain part of this missing heritability. The ADAMTS13 and VWF genes encode two interconnected proteins with fundamental hemostatic functions, the disruption of which may result in...
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