Article
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
PloS one - 1 Jan 2012
Dong Jing, Zhao Xiaojuan, Shi Sensen, Ma Zhenni, Liu Meng, Wu Qingyu, Ruan Changgeng, Dong Ningzheng
Abstract excerpt
von Willebrand factor (VWF) is essential for normal hemostasis. VWF gene mutations cause the hemorrhagic von Willebrand disease (VWD). In this study, a 9-year-old boy was diagnosed as type 2A VWD, based on a history of abnormal bleeding, low plasma VWF antigen and activity, low plasma factor VIII activity, and lack of plasma high-molecular-weight (HMW) VWF multimers. Sequencing analysis detected a 6-bp deletion...
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