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Article

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Nov 2009

Pomares Esther, Riera Marina, Castro-Navarro Joaquín, Andrés-Gutiérrez Angeles, Gonzàlez-Duarte Roser, Marfany Gemma

Abstract excerpt

PURPOSE: A large family with 11 males and 2 females with X-linked retinitis pigmentosa (XLRP) was analyzed in search of pathologic mutations. METHODS: Of the two major XLRP genes, RPGR was analyzed by SNP cosegregation and RP2 was directly screened for mutations. The pathogenicity of a new variant was assessed in silico, in vivo, and in vitro. RESULTS: The results of cosegregation analysis with SNPs closely...

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Identifiers

PMID: 19516003
DOI: 10.1167/iovs.08-3208

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.PMID 19516003Read ↗

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