| Connexin40 nonsense mutation in familial atrial fibrillation
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Authors: Yi-Qing Yang, Xian-Ling Zhang, Xin-Hua Wang, Hong-Wei Tan, Hai-Feng Shi, Wei-Feng Jiang, Wei-Yi Fang, Xu Liu |
Affiliations:
Department of Cardiovasular Research, Shanghai Chest Hospital Affiliated to Shanghai Jiaotong University, Shanghai 200030, P.R. China. yang99yang66@hotmail.com
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Doi: 10.3892/ijmm_00000505 |
Pages: 605-610 |
Abstract:
Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with substantial morbidity and mortality. Genetic variants play important roles in the pathogenesis of AF. However, AF is a genetically heterogeneous disorder, and the genetic determinants in most patients with AF remain to be identified. In this study, the entire coding region of the connexin40 gene, encoding the cardiac gap junction membrane channel protein α5, was sequenced in 126 unrelated probands with familial AF. A novel heterozygous mutation, c.145C |
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