Igor Splawski , Risk of Cardiac Arrhythmia Variant of SCN 5 A Sodium Channel Implicated
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http://www.sciencemag.org/cgi/content/full/297/5585/1333 version of this article at: including high-resolution figures, can be found in the online Updated information and services, http://www.sciencemag.org/cgi/content/full/297/5585/1333/DC1 can be found at: Supporting Online Material found at: can be related to this article A list of selected additional articles on the Science Web sites http://www.sciencemag.org/cgi/content/full/297/5585/1333#related-content http://www.sciencemag.org/cgi/content/full/297/5585/1333#otherarticles , 4 of which can be accessed for free: cites 15 articles This article 139 article(s) on the ISI Web of Science. cited by This article has been http://www.sciencemag.org/cgi/content/full/297/5585/1333#otherarticles 56 articles hosted by HighWire Press; see: cited by This article has been http://www.sciencemag.org/cgi/collection/genetics Genetics : subject collections This article appears in the following
منابع مشابه
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Every year, approximately 450,000 individuals in the United States die suddenly of cardiac arrhythmia. We identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans (P = 0.000028) and linked with arrhythmia risk in an African-American family (P = 0.005). In transfected cells, the variant allele (Y1102) accelerated channel activation, in...
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Long QT syndrome (LQT) is an inherited disorder that causes sudden death from cardiac arrhythmias, specifically torsade de pointes and ventricular fibrillation. We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24. Here we report genetic linkage between LQT3 and polymorphisms within SCN5A, the cardiac sodium channel gene. Single strand conformati...
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To identify genes involved in cardiac arrhythmia, we investigated patients with long QT syndrome (LQT), an inherited disorder causing sudden death from a ventricular tachyarrythmia, torsade de pointes. We previously mapped LQT loci on chromosomes 11 (LQT1), 7 (LQT2), and 3 (LQT3). Here, linkage and physical mapping place LQT2 and a putative potassium channel gene, HERG, on chromosome 7q35-36. S...
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Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All TS individuals have syndactyly (webbing of fingers and toes). We discovered that TS resulted from a recurrent, de novo cardiac L-type calcium chan...
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تاریخ انتشار 2007