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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: splawski i. Circulation. 2004 Apr 20;109(15):1834-41. doi: 10.1161/01.CIR.0000125524.34234.13. Epub 2004 Mar 29. Circulation. 2004. PMID: 15051636
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: splawski i. 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.
Molecular basis of the long-QT syndrome associated with deafness.
Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT. Splawski I, et al. 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.
25 results