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Cellular basis of ClC-2 Cl(−) channel–related brain and testis pathologies
The ClC-2 chloride channel is expressed in the plasma membrane of almost all mammalian cells. Mutations that cause the loss of ClC-2 function lead to retinal and testicular degeneration and leukodystrophy, whereas gain-of-function mutations cause hyperaldosteronism. Leukodystrophy is also observed w...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Biochemistry and Molecular Biology
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7949093/ https://www.ncbi.nlm.nih.gov/pubmed/33187987 http://dx.doi.org/10.1074/jbc.RA120.016031 |