The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

Phenotypic overlap of type 3 long QT syndrome (LQT3) with Brugada syndrome (BrS) is observed in some carriers of mutations in the Na channel SCN5A. While this overlap is important for patient management, the clinical features, prevalence, and mechanisms underlying such overlap have not been fully el...

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Detalhes bibliográficos
Main Authors: Makita, Naomasa, Behr, Elijah, Shimizu, Wataru, Horie, Minoru, Sunami, Akihiko, Crotti, Lia, Schulze-Bahr, Eric, Fukuhara, Shigetomo, Mochizuki, Naoki, Makiyama, Takeru, Itoh, Hideki, Christiansen, Michael, McKeown, Pascal, Miyamoto, Koji, Kamakura, Shiro, Tsutsui, Hiroyuki, Schwartz, Peter J., George, Alfred L., Roden, Dan M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2350431/
https://ncbi.nlm.nih.gov/pubmed/18451998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34057
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