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Yiguo Sun, Yi-Qing Yang, Xiang-Qun Gong, Xin-Hua Wang, Ruo-Gu Li, Hong-Wei Tan, Xu Liu, Wei-Yi Fang and Donglin Bai Novel Germline GJA5/Connexin40 Mutations Associated with Lone Atrial Fibrillation Impair Gap Junctional Intercellular Communication Human Mutation 34

Article first published online: 20 MAR 2013 | DOI: 10.1002/humu.22278

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We characterized the cellular and molecular mechanisms of germline Cx40 mutants, I75F and L229M. These Cx40 mutants impaired gap junction function via different mechanisms. I75F, substantially reduced the total number of active channels without affecting the single channel conductance. While L229M selectively impair Cx43-containing gap junction channels. Our data support the idea that mutations in the Cx40 gene may predispose the mutant carriers to AF due to an impaired gap junction function.

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