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Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3...

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Detalles Bibliográficos
Autores principales:	Ambrosini, Elena, Sicca, Federico, Brignone, Maria S., D'Adamo, Maria C., Napolitano, Carlo, Servettini, Ilenio, Moro, Francesca, Ruan, Yanfei, Guglielmi, Luca, Pieroni, Stefania, Servillo, Giuseppe, Lanciotti, Angela, Valvo, Giulia, Catacuzzeno, Luigi, Franciolini, Fabio, Molinari, Paola, Marchese, Maria, Grottesi, Alessandro, Guerrini, Renzo, Santorelli, Filippo M., Priori, Silvia, Pessia, Mauro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2014
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140467/ https://www.ncbi.nlm.nih.gov/pubmed/24794859 http://dx.doi.org/10.1093/hmg/ddu201

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