Article
Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.
Cardiology - 1 Jan 2000
Lin Yubi, Zhang Qianhuan, Zhong Zhi An, Xu Zhe, He Siqi, Rao Fang, Liu Yang, Tang Jiaojiao, Wang Feng, Liu Hui, Xie Jiajun, Wu Hongmei, Wang Shuxia, Li Xin, Shan Zhixin, Deng Chunyu, Liao Zili, Deng Hai, Liao Hongtao, Xue Yumei, Chen Wanqun, Zhan Xianzhang, Zhang Bin, Wu Shulin
Abstract excerpt
BACKGROUND: This study was designed to identify the pathogenic mutation in a Chinese family with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using whole genome sequencing (WGS). METHODS AND RESULTS: Probands II:1 and II:2 underwent routine examinations for diagnosis. Genomic DNA was extracted from the peripheral blood of family members and analyzed using WGS. A total of 60,285...
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