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Article

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Human mutation - 1 Nov 2010

Barragán Isabel, Borrego Salud, Pieras Juan Ignacio, González-del Pozo María, Santoyo Javier, Ayuso Carmen, Baiget Montserrat, Millan José M, Mena Marcela, Abd El-Aziz Mai M, Audo Isabelle, Zeitz Christina, Littink Karin W, Dopazo Joaquín, Bhattacharya Shomi S, Antiñolo Guillermo

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene(EYS) encoding an ortholog of Drosophila space maker (spam) as a commonly mutated gene in autosomal recessive RP....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Recessive

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Source

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Identifiers

PMID: 21069908
DOI: 10.1002/humu.21334
PMCID: PMC3045506

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21069908-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.PMID 21069908Read ↗

EYS is a major gene for rod-cone dystrophies in France.Semantic proximity Read ↗

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EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.Semantic proximity Read ↗

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"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".Semantic proximity Read ↗

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Semantic proximity Read ↗

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