Article
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Human molecular genetics - 15 Oct 2015
Di Resta Chiara, Pietrelli Alessandro, Sala Simone, Della Bella Paolo, De Bellis Gianluca, Ferrari Maurizio, Bordoni Roberta, Benedetti Sara
Abstract excerpt
Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients in their third to fourth decade of life. BrS is inherited as an autosomal dominant trait; however, to date genetic bases have been only partially understood. Indeed most mutations are located in the SCN5A gene, encoding the...
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