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Article

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.

Acta ophthalmologica - 1 Feb 2015

Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Corton Marta, Trujillo-Tiebas Maria-Jose, Gimenez Ascension, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Lopez-Molina Maria-Isabel, Hernan Inma, Carballo Miguel, Riveiro-Alvarez Rosa, Ayuso Carmen

Abstract excerpt

PURPOSE: We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), to assess genotype-phenotype correlations and to establish an accurate diagnostic algorithm after 23 years of data collection. PATIENTS AND METHODS: Two hundred patients were analysed through a combination of denaturing gradient gel electrophoresis, single-strand...

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PMID: 25408095
DOI: 10.1111/aos.12486

Genes

RHO

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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