A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation

BACKGROUND: Mutations in the SCN5A gene, encoding the α-subunit of the cardiac Na(+) channel, Na(v)1.5, can result in several life-threatening arrhythmias. OBJECTIVE: To characterize a distal truncating SCN5A mutation, R1860Gfs*12, identified in a family with different phenotypes including sick sinu...

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Main Authors: Ziyadeh-Isleem, Azza, Clatot, Jérôme, Duchatelet, Sabine, Gandjbakhch, Estelle, Denjoy, Isabelle, Hidden-Lucet, Françoise, Hatem, Stéphane, Deschênes, Isabelle, Coulombe, Alain, Neyroud, Nathalie, Guicheney, Pascale
格式: Artigo
語言:Inglês
出版: 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4056672/
https://ncbi.nlm.nih.gov/pubmed/24582607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2014.02.021
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