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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Bibliographic Details
Published in:Am J Physiol Cell Physiol
Main Authors: Koumangoye, Rainelli, Omer, Salma, Delpire, Eric
Format: Artigo
Language:Inglês
Published: American Physiological Society 2018
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Research Article
Online Access: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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