Unique Mixed Phenotype and Unexpected Functional Effect Revealed by Novel Compound Heterozygosity Mutations Involving SCN5A

BACKGROUND: Functional characterization of mutations involving the SCN5A-encoded cardiac sodium channel has established the pathogenic mechanisms for type 3 long QT syndrome (LQT3) and type 1 Brugada syndrome and has provided key insights into the physiological importance of essential structure-func...

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Main Authors: Medeiros-Domingo, Argelia, Tan, Bi-Hua, Torres, Pedro Iturralde, Tester, David J., Luna, Teresa Tusié, Makielski, Jonathan C., Ackerman, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3073365/
https://ncbi.nlm.nih.gov/pubmed/19632629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2009.04.034
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