Article
Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique.
Thrombosis and haemostasis - 26 Jul 2017
Liang Qian, Qin Huanhuan, Ding Qiulan, Xie Xiaoling, Wu Runhui, Wang Hongli, Hu Yiqun, Wang Xuefeng
Abstract excerpt
Von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency, heterogeneous laboratory phenotype and race specific distribution of mutations. The present study aimed to determine the correlation of genotype and phenotype in 200 Chinese individuals from 90 unrelated families with VWD. Next generation sequencing (NGS) of the whole coding VWF, copy...
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