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Mistargeting of a truncated Na-K-2Cl cotransporter in epithelial cells
We recently reported the case of a young patient with multisystem failure carrying a de novo mutation in SLC12A2, the gene encoding the Na-K-2Cl cotransporter-1 (NKCC1). Heterologous expression studies in nonepithelial cells failed to demonstrate dominant-negative effects. In this study, we examined...
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| Veröffentlicht in: | Am J Physiol Cell Physiol |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Physiological Society
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6139505/ https://ncbi.nlm.nih.gov/pubmed/29719172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00130.2018 |
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