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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...
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| Vydáno v: | PLoS One |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Public Library of Science
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4882002/ https://ncbi.nlm.nih.gov/pubmed/27228168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0156456 |
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