Article
Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity.
European journal of human genetics : EJHG - 1 Mar 2008
Yang P, Koopmann T T, Pfeufer A, Jalilzadeh S, Schulze-Bahr E, Kääb S, Wilde A A, Roden D M, Bezzina C R
Abstract excerpt
Variable transcription of the cardiac sodium channel gene is a candidate mechanism determining arrhythmia susceptibility. We have previously cloned and characterized the core promoter and flanking region of SCN5A, encoding the cardiac sodium channel. Loss-of-function mutations in this gene have been reported in approximately 20% of patients with Brugada syndrome, an inherited cardiac electrical disorder...
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