Article
Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.
Journal of thrombosis and haemostasis : JTH - 1 May 2011
Mohl A, Boda Z, Jager R, Losonczy H, Marosi A, Masszi T, Nagy E, Nemes L, Obser T, Oyen F, Radványi G, Schlammadinger Á, Szélessy Z S, Várkonyi A, Vezendy K, Vilimi B, Schneppenheim R, Bodó I
Abstract excerpt
BACKGROUND: Type 3 von Willebrand disease (VWD) is an autosomal recessive bleeding disorder, characterized by virtually undetectable plasma von Willebrand factor (VWF) and consequently reduced plasma factor VIII levels. Genetic mutations responsible for type 3 VWD are very heterogeneous, scattered throughout the VWF gene and show high variability among different populations. METHODS: Twenty-five severe VWD...
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