Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

The function of the 12 positive charges in the 53-residue III/IV interdomain linker of the cardiac Na(+) channel is unclear. We have identified a four-generation family, including 17 gene carriers with long QT syndrome, Brugada syndrome, and conduction system disease with deletion of lysine 1500 (ΔK...

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Autores principales: Grant, Augustus O., Carboni, Michael P., Neplioueva, Valentina, Starmer, C. Frank, Memmi, Mirella, Napolitano, Carlo, Priori, Silvia
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2002
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC150793/
https://ncbi.nlm.nih.gov/pubmed/12393856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI15570
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