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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Autors principals: Kousal, Bohdan, Skalicka, Pavlina, Valesova, Lucie, Fletcher, Tracy, Hart-Holden, Niki, O'Grady, Anna, Chakarova, Christina F., Michaelides, Michel, Hardcastle, Alison J., Liskova, Petra
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2014
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169777/
https://ncbi.nlm.nih.gov/pubmed/25352739
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