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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awdur: Cideciyan, Artur V.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2010
Pynciau:
Mynediad Ar-lein: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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