Article
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
Thrombosis and haemostasis - 3 Jul 2014
Brehm M A, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider S W, Schneppenheim R
Abstract excerpt
The bleeding disorder von Willebrand disease (VWD) is caused by mutations of von Willebrand factor (VWF), a multimeric glycoprotein essential for platelet-dependent primary haemostasis. VWD type 2A-associated mutations each disrupt VWF biosynthesis and function at different stages, depending on the VWF domain altered by the mutation. These effects cause considerable heterogeneity in phenotypes and symptoms. To...
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