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Pathophysiology of ion channel mutations.
Keating MT, Sanguinetti MC. Keating MT, et al. Curr Opin Genet Dev. 1996 Jun;6(3):326-33. doi: 10.1016/s0959-437x(96)80010-4. Curr Opin Genet Dev. 1996. PMID: 8791523 Review.
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
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Splawski I, et al. Among authors: keating mt. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. doi: 10.1073/pnas.0502506102. Epub 2005 Apr 29. Proc Natl Acad Sci U S A. 2005. PMID: 15863612 Free PMC article.
Fast inactivation causes rectification of the IKr channel.
Spector PS, Curran ME, Zou A, Keating MT, Sanguinetti MC. Spector PS, et al. Among authors: keating mt. J Gen Physiol. 1996 May;107(5):611-9. doi: 10.1085/jgp.107.5.611. J Gen Physiol. 1996. PMID: 8740374 Free PMC article.
130 results