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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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Détails bibliographiques
Publié dans:Adv Exp Med Biol
Auteurs principaux: Fahim, Abigail T., Thompson, Debra A.
Format: Artigo
Langue:Inglês
Publié: 2019
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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