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Dominant-Negative Effect of a Missense Variant in the TASK-2 (KCNK5) K(+) Channel Associated with Balkan Endemic Nephropathy
TASK-2, a member of the Two-Pore Domain (K2P) subfamily of K(+) channels, is encoded by the KCNK5 gene. The channel is expressed primarily in renal epithelial tissues and a potentially deleterious missense variant in KCNK5 has recently been shown to be prevalent amongst patients predisposed to the d...
Autores principales: | Reed, Alan P., Bucci, Giovanna, Abd-Wahab, Firdaus, Tucker, Stephen J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882002/ https://www.ncbi.nlm.nih.gov/pubmed/27228168 http://dx.doi.org/10.1371/journal.pone.0156456 |
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