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Article

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Human genetics - 1 Jan 2000

Zito I, Thiselton D L, Gorin M B, Stout J T, Plant C, Bird A C, Bhattacharya S S, Hardcastle A J

Abstract excerpt

The X-linked form of retinitis pigmentosa (XLRP) is a severe disease of the retina, characterised by night blindness and visual field constriction in a degenerative process, culminating with complete loss of sight within the third decade of life. Genetic mapping studies have identified two major loci for XLRP: RP3 (70%-75% of XLRP) and RP2 (20%-25% of XLRP). The RPGR (retinitis pigmentosa GTPase regulator) gene...

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Source

Identifiers

PMID: 10480356
DOI: 10.1007/s004399900110

Genes

RPGR

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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.

Related research

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Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.PMID 10480356Read ↗

Five novel RPGR mutations in families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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The human retinitis pigmentosa GTPase regulator gene variant database.Semantic proximity Read ↗

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Semantic proximity Read ↗

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.Semantic proximity Read ↗

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.Semantic proximity Read ↗

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.Semantic proximity Read ↗

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