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Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation()

BACKGROUND: Phenotypes often differ even within family members carrying the same SCN5A mutation. We aimed to evaluate the genetic modifiers in a family with Brugada syndrome (BrS) and sick sinus syndrome (SSS) with an SCN5A mutation that causes the truncated alpha-subunit of cardiac Na channel prote...

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Detalles Bibliográficos
Autores principales: Aoki, Hisaaki, Nakamura, Yoshihide, Ohno, Seiko, Makiyama, Takeru, Horie, Minoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300865/
https://www.ncbi.nlm.nih.gov/pubmed/28217227
http://dx.doi.org/10.1016/j.joa.2016.05.007

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