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Published on: March 12, 2013
Connexin40 nonsense mutation in familial atrial fibrillation
Yi-Qing Yang1, Xian-Ling Zhang, Xin-Hua Wang
1Department of Cardiovasular Research, Shanghai Chest Hospital Affiliated to Shanghai Jiaotong University, Shanghai, P.R. China. yang99yang66@hotmail.com
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 alpha5, was sequenced in 126 unrelated probands with familial AF. A novel heterozygous mutation, c.145C
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