Article
Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.
Journal of electrocardiology - 1 Jan 2000
Lin Yubi, Huang Jiana, Zhao Ting, He Siqi, Huang Zifeng, Chen Xiumin, Fei Hongwen, Luo Haiying, Liu Hui, Wu Shulin, Lin Xiufang
Abstract excerpt
BACKGROUNDS: This study was designed to identify the pathogenic mutations in two Chinese families of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using the Whole Exome Sequencing (WES). METHODS AND RESULTS: The proband 1 (Family 1, II:1) and proband 2 (Family 2, II:1) underwent the WES of DNA from peripheral blood. The genes susceptible to arrhythmias and cardiomyopathies were analyzed and...
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