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Leber Congenital Amaurosis due to RPE65 Mutations and its Treatment with Gene Therapy
Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production of chromopho...
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2010
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| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2903652/ https://ncbi.nlm.nih.gov/pubmed/20399883 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.preteyeres.2010.04.002 |
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