Article
Storage and secretion of naturally occurring von Willebrand factor A domain variants.
British journal of haematology - 1 Nov 2014
Groeneveld Dafna J, Wang Jiong-Wei, Mourik Marjon J, Dirven Richard J, Valentijn Karine M, Voorberg Jan, Reitsma Pieter H, Eikenboom Jeroen
Abstract excerpt
Von Willebrand disease (VWD) is a bleeding disorder characterized by reduced plasma von Willebrand factor (VWF) levels or functionally abnormal VWF. Low VWF plasma levels in VWD patients are the result of mutations in the VWF gene that lead to decreased synthesis, impaired secretion, increased clearance or a combination thereof. However, expression studies of variants located in the A domains of VWF are limited....
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