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Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex

Mutations in 11 genes that encode ion channels or their associated proteins cause inherited long QT syndrome (LQTS) and account for ≈75–80% of cases (LQT1–11). Direct sequencing of SNTA1, the gene encoding α1-syntrophin, was performed in a cohort of LQTS patients that were negative for mutations in...

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Main Authors: Ueda, Kazuo, Valdivia, Carmen, Medeiros-Domingo, Argelia, Tester, David J., Vatta, Matteo, Farrugia, Gianrico, Ackerman, Michael J., Makielski, Jonathan C.
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2008
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2442127/
https://ncbi.nlm.nih.gov/pubmed/18591664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0801294105
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