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Article

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

PloS one - 1 Jan 2011

González-del Pozo María, Borrego Salud, Barragán Isabel, Pieras Juan I, Santoyo Javier, Matamala Nerea, Naranjo Belén, Dopazo Joaquín, Antiñolo Guillermo

Abstract excerpt

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. RP is the leading cause of visual loss in individuals younger than 60 years, with a prevalence of about 1 in 4000. The molecular genetic diagnosis of autosomal recessive RP (arRP) is challenging due to the large genetic and clinical heterogeneity. Traditional methods for...

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PMID: 22164218
DOI: 10.1371/journal.pone.0027894
PMCID: PMC3229495

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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