Article
Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
Journal of thrombosis and haemostasis : JTH - 1 May 2012
Castaman G, Giacomelli S H, Jacobi P M, Obser T, Budde U, Rodeghiero F, Schneppenheim R, Haberichter S L
Abstract excerpt
BACKGROUND: von Willebrand disease (VWD) is caused by mutations in von Willebrand factor (VWF) that have different pathophysiologic effect in causing low plasma VWF levels. Type 1 VWD includes quantitative plasma VWF deficiency with normal VWF structure and function. OBJECTIVES: We report three novel type 1 VWF mutations (A1716P, C2190Y and R2663C) located in different VWF domains that are associated with reduced...
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