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Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65
RPE65 is the essential trans–cis isomerase of the classical retinoid (visual) cycle. Mutations in RPE65 give rise to severe retinal dystrophies, most of which are associated with loss of protein function and recessive inheritance. The only known exception is a c.1430G>A (D477G) mutation that give...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6005012/ https://ncbi.nlm.nih.gov/pubmed/29659842 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy128 |
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