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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4140467/
https://ncbi.nlm.nih.gov/pubmed/24794859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu201
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