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Article

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.

International journal of molecular sciences - 25 Mar 2018

Noureldin Mahmoud, Chen Honghong, Bai Donglin

Abstract excerpt

Atrial fibrillation (AF) is the most common form of cardiac arrhythmia. Recently, four novel heterozygous Cx40 mutations-K107R, L223M, Q236H, and I257L-were identified in 4 of 310 unrelated AF patients and a followup genetic analysis of the mutant carriers' families showed that the mutants were present in all the affected members. To study possible alterations associated with these Cx40 mutants, including their...

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Identifiers

PMID: 29587382
DOI: 10.3390/ijms19040977
PMCID: PMC5979441

Genes

GJA5

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