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1996 1
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2005 1
2006 1
2024 0

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Page 1
CACNA1H mutations in autism spectrum disorders.
Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. Splawski I, et al. J Biol Chem. 2006 Aug 4;281(31):22085-22091. doi: 10.1074/jbc.M603316200. Epub 2006 Jun 5. J Biol Chem. 2006. PMID: 16754686 Free article.
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. 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.
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. 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.