Case report: Whole-exome sequencing identifies a novel <i>DES</i> mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Liu, Yu-Xing; Yu, Rong; Sheng, Yue; Fan, Liang-Liang; Deng, Yao.

Afiliação

Liu YX; Department of Cardiovascular Surgery, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Yu R; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.
Sheng Y; Hunan Key Laboratory of Animal Models for Human Disease, School of Life Sciences, Central South University, Changsha, China.
Fan LL; Department of Anesthesiology, The Second Xiangya Hospital, Central South University, Changsha, China.
Deng Y; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.

Front Cardiovasc Med ; 9: 971501, 2022.

Article em En | MEDLINE | ID: mdl-36277747