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Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
BEST1 is a Ca(2+)-activated Cl(−) channel predominantly expressed in retinal pigment epithelium (RPE), and over 250 genetic mutations in the BEST1 gene have been identified to cause retinal degenerative disorders generally known as bestrophinopathies. As most BEST1 mutations are autosomal dominant,...
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| Pubblicato in: | Sci Rep |
|---|---|
| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6910965/ https://ncbi.nlm.nih.gov/pubmed/31836750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-54892-7 |
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