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Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis
RPE65 is a membrane-associated retinoid isomerase involved in the visual cycle responsible for sustaining vision. Many mutations in the human RPE65 gene are associated with distinct forms of retinal degenerative diseases. The pathogenic mechanisms for most of these mutations remain poorly understood...
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| Pubblicato in: | J Biochem |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4516983/ https://ncbi.nlm.nih.gov/pubmed/25752820 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jb/mvv028 |
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