Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. In...

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Main Authors: Tristani-Firouzi, Martin, Jensen, Judy L., Donaldson, Matthew R., Sansone, Valeria, Meola, Giovanni, Hahn, Angelika, Bendahhou, Said, Kwiecinski, Hubert, Fidzianska, Anna, Plaster, Nikki, Fu, Ying-Hui, Ptacek, Louis J., Tawil, Rabi
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society for Clinical Investigation 2002
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC151085/
https://ncbi.nlm.nih.gov/pubmed/12163457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI15183
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