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Article

Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.

Human mutation - 1 Apr 2013

Sun Yiguo, Yang Yi-Qing, Gong Xiang-Qun, Wang Xin-Hua, Li Ruo-Gu, Tan Hong-Wei, Liu Xu, Fang Wei-Yi, Bai Donglin

Abstract excerpt

Atrial fibrillation (AF) is the most common form of sustained cardiac arrhythmia worldwide. Here, we investigate the molecular and cellular mechanisms of lone AF-linked germline mutations in the connexin40 (Cx40) gene, GJA5. The entire coding region of GJA5 was sequenced in 68 unrelated patients with lone AF. A novel germline heterozygous missense mutation in Cx40 (p.I75F) was identified in one index patient. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23348765
DOI: 10.1002/humu.22278

Genes

GJA5

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Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.PMID 23348765Read ↗

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