Article
Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction.
Molecular medicine reports - 1 May 2018
Zhou Ye, Qian Zhiyong, Yang Jing, Zhu Meng, Hou Xiaofeng, Wang Yao, Wu Hongping, Zou Jiangang
Abstract excerpt
Left ventricular noncompaction (LVNC) is an inherited cardiomyopathy involving numerous genes. To identify novel candidate causal mutations, a whole exome sequencing study was performed on a Chinese LVNC family. Exons of the most prevalent pathogenic genes of LVNC (myosin heavy chain 7 and actin, α‑cardiac muscle 1) were sequenced, although no mutations were identified. Following this, Burrows‑Wheeler Aligner,...
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