Article
Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.
Clinical science (London, England : 1979) - 1 Sept 2016
Piao Chunmei, Zhu Yan, Zhang Chen, Xi Xin, Liu Xuxia, Zheng Shuai, Li Xiaoyan, Guo Jun, Jia Lixin, Nakanishi Toshio, Cai Tao, Gu Hong, Du Jie
Abstract excerpt
Pulmonary artery hypertension (PAH) is characterized as sustained elevation of pressure in the pulmonary vascular system that is attributable to a variety of causes. More than a dozen genes have previously been proposed as being associated with PAH. To examine potential mutations of these genes in patients with PAH, we developed a targeted exome kit containing 22 PAH-associated genes for genetic screens of 80...
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