The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation

The retinol isomerase retinal pigment epithelium (RPE) 65 is a key enzyme in the visual cycle that regenerates the chromophore, 11-cis-retinal, required for vision in all vertebrates. Mutations in RPE65 are associated with blinding diseases. D477G (C.1430G > A) is the only known RPE65 variant to...

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Detalles Bibliográficos
Autores principales: Wu, Wenjing, Takahashi, Yusuke, Shin, Henry Younghwa, Ma, Xiang, Moiseyev, Gennadiy, Ma, Jian-Xing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931212/
https://www.ncbi.nlm.nih.gov/pubmed/35271391
http://dx.doi.org/10.1073/pnas.2115202119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931212/
https://www.ncbi.nlm.nih.gov/pubmed/35271391
http://dx.doi.org/10.1073/pnas.2115202119

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