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Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

PURPOSE: To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women. METHODS: Comprehensive ophthalmological examination including spectral domain optical coheren...

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Detalles Bibliográficos
Autores principales:	Kousal, Bohdan, Skalicka, Pavlina, Valesova, Lucie, Fletcher, Tracy, Hart-Holden, Niki, O'Grady, Anna, Chakarova, Christina F., Michaelides, Michel, Hardcastle, Alison J., Liskova, Petra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169777/ https://www.ncbi.nlm.nih.gov/pubmed/25352739

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