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Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. RDH12 is involved in photoreceptor retinoid metabolism and is a potential target for gene therapy, which has been successful in treating RPE65-associated LCA. RDH12-associa...
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| Publié dans: | Adv Exp Med Biol |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7065034/ https://ncbi.nlm.nih.gov/pubmed/31884613 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-3-030-27378-1_34 |
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