Article
Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families.
Thrombosis and haemostasis - 1 Jan 2000
Schneppenheim R, Federici A B, Budde U, Castaman G, Drewke E, Krey S, Mannucci P M, Riesen G, Rodeghiero F, Zieger B, Zimmermann R
Abstract excerpt
Von Willebrand disease type 2M "Vicenza" (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of "supranormal" multimers in plasma. This specific phenotype has been described in Italian and recently also in German patients. The molecular defect is linked to the VWF gene. However, no specific mutations have been identified until now. We analysed the...
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