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Article

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

Molecular vision - 1 Jan 2012

Blanco-Kelly Fiona, García-Hoyos María, Cortón Marta, Avila-Fernández Almudena, Riveiro-Álvarez Rosa, Giménez Ascensión, Hernan Inma, Carballo Miguel, Ayuso Carmen

Abstract excerpt

PURPOSE: Presently, 22 genes have been described in association with autosomal dominant retinitis pigmentosa (adRP); however, they explain only 50% of all cases, making genetic diagnosis of this disease difficult and costly. The aim of this study was to evaluate a specific genotyping microarray for its application to the molecular diagnosis of adRP in Spanish patients. METHODS: We analyzed 139 unrelated Spanish...

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PMID: 22736939
PMCID: PMC3380913

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RHO

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Source receipt: pubmed, retrieved 7 Sept 2026.

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