Article
The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.
Revista espanola de cardiologia - 1 Jul 2010
García-Castro Mónica, García Cristina, Reguero Julián R, Miar Ana, Rubín José M, Alvarez Victoria, Morís César, Coto Eliecer
Abstract excerpt
Brugada syndrome is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. Familial transmission is frequent and approximately 25% of cases exhibit mutations in the SCN5A gene. We analyzed the sequence of this gene in 25 Spanish patients with Brugada syndrome. In 4 (16%), we found mutations that had not previously been described: three were amino acid changes (i.e....
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