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A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-of-function mutations in the same channel cau...
Autores principales: | Binda, Anna, Rivolta, Ilaria, Villa, Chiara, Chisci, Elisa, Beghi, Massimiliano, Cornaggia, Cesare M., Giovannoni, Roberto, Combi, Romina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869910/ https://www.ncbi.nlm.nih.gov/pubmed/29615871 http://dx.doi.org/10.3389/fncel.2018.00076 |
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