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Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome

Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit Kir2.1. Here, we report the identification of...

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Detalles Bibliográficos
Main Authors: Marrus, Scott B, Cuculich, Phillip S, Wang, Wei, Nerbonne, Jeanne M
Formato: Artigo
Idioma:Inglês
Publicado: Landes Bioscience 2011
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3265798/
https://ncbi.nlm.nih.gov/pubmed/22186697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/chan.5.6.18524
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