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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, Tanck MW, Kapplinger JD, Hofman N, Sinner MF, Müller M, Wijnen WJ, Tan HL, Bezzina CR, Creemers EE, Wilde AA, Ackerman MJ, Pinto YM. Amin AS, et al. Among authors: hofman n. Eur Heart J. 2012 Mar;33(6):714-23. doi: 10.1093/eurheartj/ehr473. Epub 2011 Dec 23. Eur Heart J. 2012. PMID: 22199116 Free PMC article.
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S. Moss AJ, et al. Among authors: hofman n. Circulation. 2007 May 15;115(19):2481-9. doi: 10.1161/CIRCULATIONAHA.106.665406. Epub 2007 Apr 30. Circulation. 2007. PMID: 17470695 Free PMC article.
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