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A sodium channel pore mutation causing Brugada syndrome.
Pfahnl AE, Viswanathan PC, Weiss R, Shang LL, Sanyal S, Shusterman V, Kornblit C, London B, Dudley SC Jr. Pfahnl AE, et al. Heart Rhythm. 2007 Jan;4(1):46-53. doi: 10.1016/j.hrthm.2006.09.031. Epub 2006 Sep 28. Heart Rhythm. 2007. PMID: 17198989 Free PMC article.
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. London B, et al. Among authors: pfahnl ae. Circulation. 2007 Nov 13;116(20):2260-8. doi: 10.1161/CIRCULATIONAHA.107.703330. Epub 2007 Oct 29. Circulation. 2007. PMID: 17967977 Free PMC article.
Mutagenesis to study channel structure.
Dahl G, Pfahnl A. Dahl G, et al. Methods Mol Biol. 2001;154:251-68. doi: 10.1385/1-59259-043-8:251. Methods Mol Biol. 2001. PMID: 11218652 No abstract available.
12 results