Abstract:Background: Von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by quantitative and/or qualitative von Willebrand factor (VWF) abnormalities. VWF gene is a large gene consists of 52 exons, wheras its pseudogene corresponds to exons 23-34 that makes the analysis much complicated. In this study, we performed genetic analyses of the VWF gene from 20 Japanese VWD patients, aimed to find the causative genetic mutations by using various techniques including the exome sequencing … Show more
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