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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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Detalles Bibliográficos
Autores principales:	Göppner, Corinna, Soria, Audrey H., Hoegg-Beiler, Maja B., Jentsch, Thomas J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2020
Materias:	Research Article
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

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