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2005 | 1 |
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C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
Hum Mol Genet. 2006 Oct 1;15(19):2888-902. doi: 10.1093/hmg/ddl230. Epub 2006 Aug 21.
Hum Mol Genet. 2006.
PMID: 16923798
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ, Will ML, Haglund CM, Ackerman MJ.
Tester DJ, et al.
Heart Rhythm. 2005 May;2(5):507-17. doi: 10.1016/j.hrthm.2005.01.020.
Heart Rhythm. 2005.
PMID: 15840476
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Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.
Splawski I, et al.
Circulation. 2000 Sep 5;102(10):1178-85. doi: 10.1161/01.cir.102.10.1178.
Circulation. 2000.
PMID: 10973849
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The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M.
Hedley PL, et al.
Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106.
Hum Mutat. 2009.
PMID: 19862833
Review.
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