Gain-of-Function Mutation, S422L, in the KCNJ8-Encoded Cardiac K(ATP) Channel Kir6.1 as a Pathogenic Substrate for J Wave Syndromes

BACKGROUND: J Wave Syndromes have emerged conceptually to encompass the pleiotropic expression of J point abnormalities including Brugada syndrome (BrS) and early repolarization syndrome (ERS). Recently, KCNJ8, which encodes the cardiac K(ATP) Kir6.1 channel, has been implicated in ERS following the...

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Detalhes bibliográficos
Main Authors: Medeiros-Domingo, Argelia, Tan, Bi-Hua, Crotti, Lia, Tester, David J., Eckhardt, Lee, Cuoretti, Alessandra, Kroboth, Stacie L., Song, Chunhua, Zhou, Qing, Kopp, Doug, Schwartz, Peter J., Makielski, Jonathan C., Ackerman, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049900/
https://ncbi.nlm.nih.gov/pubmed/20558321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2010.06.016
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