Article
Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.
Thrombosis and haemostasis - 1 Apr 2013
Ahmad Firdos, Budde Ulrich, Jan Rifat, Oyen Florian, Kannan Meganathan, Saxena Renu, Schneppenheim Reinhard
Abstract excerpt
Severe type 3 VWD (VWD3) is characterised by complete absence or presence of trace amounts of non-functional von Willebrand factor (VWF). The study was designed to evaluate the VWF mutations in VWD3 patients and characterise the breakpoints of two identified homozygous novel large deletions. Patients were diagnosed by conventional tests and VWF multimer analysis. Mutation screening was performed in 19 VWD3...
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