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Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis
Mutations in RPE65 or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA), a severe hereditary blindness occurring in early childhood. The pathology is attributed to a combination of 11-cis-retinal deficiency and photoreceptor degenerat...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4351380/ https://ncbi.nlm.nih.gov/pubmed/25416279 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu588 |
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