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Article

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

American journal of human genetics - 14 May 2010

Nishimura Darryl Y, Baye Lisa M, Perveen Rahat, Searby Charles C, Avila-Fernandez Almudena, Pereiro Ines, Ayuso Carmen, Valverde Diana, Bishop Paul N, Manson Forbes D C, Urquhart Jill, Stone Edwin M, Slusarski Diane C, Black Graeme C M, Sheffield Val C

Abstract excerpt

Retinitis pigmentosa is a genetically heterogeneous group of inherited ocular disorders characterized by progressive photoreceptor cell loss, night blindness, constriction of the visual field, and progressive visual disability. Homozygosity mapping and gene expression studies identified a 2 exon gene, C2ORF71. The encoded protein has no homologs and is highly expressed in the eye, where it is specifically...

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Identifiers

PMID: 20398886
DOI: 10.1016/j.ajhg.2010.03.005
PMCID: PMC2868997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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