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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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2014
主題:
オンライン・アクセス: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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