Article
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
Scientific reports - 19 Jun 2015
Liu Xuxia, Jiang Tengyong, Piao Chunmei, Li Xiaoyan, Guo Jun, Zheng Shuai, Zhang Xiaoping, Cai Tao, Du Jie
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is a major cause of sudden cardiac death. Mutations in the MYBPC3 gene represent the cause of HCM in ~35% of patients with HCM. However, genetic testing in clinic setting has been limited due to the cost and relatively time-consuming by Sanger sequencing. Here, we developed a HCM Molecular Diagnostic Kit enabling ultra-low-cost targeted gene resequencing in a large cohort and...
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