Article
Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.
PloS one - 1 Jan 2012
van Loon Janine E, Sanders Yvonne V, de Wee Eva M, Kruip Marieke J H A, de Maat Moniek P M, Leebeek Frank W G
Abstract excerpt
BACKGROUND: In type 1 von Willebrand Disease (VWD) patients, von Willebrand Factor (VWF) levels and bleeding symptoms are highly variable. Recently, the association between genetic variations in STXBP5 and STX2 with VWF levels has been discovered in the general population. We assessed the relationship between genetic variations in STXBP5 and STX2, VWF levels, and bleeding phenotype in type 1 VWD patients....
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