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Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure
Mutations of the human CLCN5 gene, which encodes the CLC-5 Cl(−)/H(+) exchanger, lead to Dent's disease. Mutations result in functional defects that range from moderate reductions to complete loss of whole cell currents, although the severity of the functional defect rarely correlates with the...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Physiological Society
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2643861/ https://ncbi.nlm.nih.gov/pubmed/19019917 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajprenal.90526.2008 |
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