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Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

Purpose: RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone–rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically c...

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Detalles Bibliográficos
Autores principales:	Beryozkin, Avigail, Aweidah, Hamzah, Carrero Valenzuela, Roque Daniel, Berman, Myriam, Iguzquiza, Oscar, Cremers, Frans P. M., Khan, Muhammad Imran, Swaroop, Anand, Amer, Radgonde, Khateb, Samer, Ben-Yosef, Tamar, Sharon, Dror, Banin, Eyal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551679/ https://www.ncbi.nlm.nih.gov/pubmed/34722527 http://dx.doi.org/10.3389/fcell.2021.746781

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