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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...
Bewaard in:
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2010
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| Onderwerpen: | |
| Online toegang: | 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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