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Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients
Dent disease type 1, an X‐linked inherited kidney disease is caused by mutations in electrogenic Cl(−)/H(+) exchanger, ClC‐5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W. We also studied T657S, which has a high mi...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848727/ https://www.ncbi.nlm.nih.gov/pubmed/27117801 http://dx.doi.org/10.14814/phy2.12776 |