Article
Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2017
Bowman M L, Pluthero F G, Tuttle A, Casey L, Li L, Christensen H, Robinson K S, Lillicrap D, Kahr W H A, James P
Abstract excerpt
Essentials von Willebrand factor (VWF) is synthesized in endothelial cells and platelet precursors. Type 3 patients with Pro2808Leufs*24 have lower bleeding scores than other type 3s. The Pro2808Leufs*24 variant was examined in patient platelets and endothelial cells. Type 3s with this variant contain releaseable VWF, possibly reducing bleeding. SUMMARY: Background A novel variant, p.Pro2808Leufs*24, in the von...
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