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An intronic mutation causes long QT syndrome.
Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I. Zhang L, et al. Among authors: keating mt. J Am Coll Cardiol. 2004 Sep 15;44(6):1283-91. doi: 10.1016/j.jacc.2004.06.045. J Am Coll Cardiol. 2004. PMID: 15364333 Free article.
Compound mutations: a common cause of severe long-QT syndrome.
Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Westenskow P, et al. Among authors: keating mt. Circulation. 2004 Apr 20;109(15):1834-41. doi: 10.1161/01.CIR.0000125524.34234.13. Epub 2004 Mar 29. Circulation. 2004. PMID: 15051636
Locus heterogeneity of autosomal dominant long QT syndrome.
Curran M, Atkinson D, Timothy K, Vincent GM, Moss AJ, Leppert M, Keating M. Curran M, et al. J Clin Invest. 1993 Aug;92(2):799-803. doi: 10.1172/JCI116653. J Clin Invest. 1993. PMID: 8102381 Free PMC article.
Molecular basis of the long-QT syndrome associated with deafness.
Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT. Splawski I, et al. Among authors: keating mt. N Engl J Med. 1997 May 29;336(22):1562-7. doi: 10.1056/NEJM199705293362204. N Engl J Med. 1997. PMID: 9164812 Free article. No abstract available.
131 results