Article
Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
Thrombosis and haemostasis - 1 Nov 2020
de Jong Annika, Dirven Richard J, Boender Johan, Atiq Ferdows, Anvar Seyed Yahya, Leebeek Frank W G, van Vlijmen Bart J M, Eikenboom Jeroen
Abstract excerpt
Von Willebrand disease (VWD) is the most common inherited bleeding disorder and is mainly caused by dominant-negative mutations in the multimeric protein von Willebrand factor (VWF). These mutations may either result in quantitative or qualitative defects in VWF. VWF is an endothelial protein that is secreted to the circulation upon endothelial activation. Once secreted, VWF multimers bind platelets and chaperone...
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