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Human SLC4A11-C functions as a DIDS-stimulatable H(+)(OH(−)) permeation pathway: partial correction of R109H mutant transport
The SLC4A11 gene mutations cause a variety of genetic corneal diseases, including congenital hereditary endothelial dystrophy 2 (CHED2), Harboyan syndrome, some cases of Fuchs' endothelial dystrophy (FECD), and possibly familial keratoconus. Three NH(2)-terminal variants of the human SLC4A11 ge...
Enregistré dans:
| Publié dans: | Am J Physiol Cell Physiol |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Physiological Society
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4297769/ https://ncbi.nlm.nih.gov/pubmed/25394471 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00271.2014 |
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