Article
Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
Thrombosis and haemostasis - 1 Jan 2013
Ahmad Firdos, Jan Rifat, Kannan Meganathan, Obser Tobias, Hassan Md Imtaiyaz, Oyen Florian, Budde Ulrich, Saxena Renu, Schneppenheim Reinhard
Abstract excerpt
Type 2 von Willebrand disease (VWD) is characterised by qualitative defects in von Willebrand factor (VWF). Exon 28 of the VWF gene is known to be a hot spot for type 2 VWD mutations. The goal of this study was to characterise the mutations in VWF exon 28 and understand the molecular basis of phenotypes through in vitro and in silico studies. Mutation screening was performed in 56 type 2 VWD patients...
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