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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

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