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Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photon capturing 11-cis retinal. To date, almost 200 loss-of-funct...

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Detalles Bibliográficos
Autores principales:	Kiang, Anna-Sophia, Kenna, Paul F., Humphries, Marian M., Ozaki, Ema, Koenekoop, Robert K., Campbell, Matthew, Farrar, G. Jane, Humphries, Pete
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760593/ https://www.ncbi.nlm.nih.gov/pubmed/33261050 http://dx.doi.org/10.3390/genes11121420

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