Genotype–phenotype relationship and risk stratification in loss‐of‐function SCN5A mutation carriers

INTRODUCTION: Loss‐of‐function (LoF) mutations in the SCN5A gene cause multiple phenotypes including Brugada Syndrome (BrS) and a diffuse cardiac conduction defect. Markers of increased risk for sudden cardiac death (SCD) in LoF SCN5A mutation carriers are ill defined. We hypothesized that late pote...

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Detalhes bibliográficos
Publicado no:Ann Noninvasive Electrocardiol
Main Authors: Robyns, Tomas, Nuyens, Dieter, Vandenberk, Bert, Kuiperi, Cuno, Corveleyn, Anniek, Breckpot, Jeroen, Garweg, Christophe, Ector, Joris, Willems, Rik
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7313243/
https://ncbi.nlm.nih.gov/pubmed/29709101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/anec.12548
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