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2004 | 1 |
2009 | 1 |
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Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2: additional amino acids generated by frameshift cause accelerated inactivation.
J Mol Cell Cardiol. 2004 Dec;37(6):1205-11. doi: 10.1016/j.yjmcc.2004.09.010.
J Mol Cell Cardiol. 2004.
PMID: 15572050
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.
Kapplinger JD, et al.
Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.
Heart Rhythm. 2009.
PMID: 19716085
Free PMC article.
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