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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...
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| Pubblicato in: | J Biol Chem |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7949093/ https://ncbi.nlm.nih.gov/pubmed/33187987 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.016031 |
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