Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy
发布时间：2017-03-30
点击次数：
影响因子：1.791
发表刊物：Cardiology
关键字：TTN mutations, Dilated cardiomyopathy, Whole-exome sequencing
摘要：OBJECTIVES: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. METHODS: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequencing was applied to confirm the mutation cosegregation in the affected families. RESULTS: A nonse
备注：OBJECTIVES: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. METHODS: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequ
合写作者：Xiang R, Xia K, Tao L J, Huang H, Liu X, Zhang H, Fan L L, Liu J S
论文类型：基础研究
学科门类：生物学
文献类型：J
卷号：136
期号：1
页面范围：10-14
是否译文：否
发表时间：2017-01-31
收录刊物：SCI