Article
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Journal of the American College of Cardiology - 9 Oct 2012
Crotti Lia, Marcou Cherisse A, Tester David J, Castelletti Silvia, Giudicessi John R, Torchio Margherita, Medeiros-Domingo Argelia, Simone Savastano, Will Melissa L, Dagradi Federica, Schwartz Peter J, Ackerman Michael J
Abstract excerpt
OBJECTIVES: The aim of this study was to provide the spectrum and prevalence of mutations in the 12 Brugada syndrome (BrS)-susceptibility genes discovered to date in a single large cohort of unrelated BrS patients. BACKGROUND: BrS is a potentially lethal heritable arrhythmia syndrome diagnosed electrocardiographically by coved-type ST-segment elevation in the right precordial leads (V1 to V3; type 1 Brugada...
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