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Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

Mutations in RPGR(ORF15) are associated with rod-cone or cone/cone-rod dystrophy, the latter associated with mutations at the distal end. We describe the phenotype associated with a novel variant in the terminal codon of the RPGR(ORF15) c.3457T>A (Ter1153Lysext*38), which results in a C-terminal...

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Detalles Bibliográficos
Autores principales:	Hadalin, Vlasta, Šuštar, Maja, Volk, Marija, Maver, Aleš, Sajovic, Jana, Jarc-Vidmar, Martina, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066792/ https://www.ncbi.nlm.nih.gov/pubmed/33805381 http://dx.doi.org/10.3390/genes12040499

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