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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2014
विषय:
ऑनलाइन पहुंच: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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