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Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.
Biochem Biophys Res Commun. 2009 Feb 27;380(1):132-7. doi: 10.1016/j.bbrc.2009.01.052. Epub 2009 Jan 22.
Biochem Biophys Res Commun. 2009.
PMID: 19167345
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AA, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M.
Makita N, et al.
Circ Arrhythm Electrophysiol. 2012 Feb;5(1):163-72. doi: 10.1161/CIRCEP.111.967604. Epub 2012 Jan 13.
Circ Arrhythm Electrophysiol. 2012.
PMID: 22247482
Free PMC article.
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