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Article

Novel mutations of the RPGR gene in RP3 families.

Human mutation - 1 Apr 2000

Zito I, Gorin M B, Plant C, Bird A C, Bhattacharya S S, Hardcastle A J

Abstract excerpt

X-linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness within the third decade of life. Mutations in the RPGR gene (retinitis pigmentosa GTPase regulator), located on Xp21.1 in the RP3 region, have been associated with an RP phenotype. Further to our previous mutation screening of RPGR in families segregating...

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Source

Identifiers

PMID: 10737996
DOI: 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4

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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Novel mutations of the RPGR gene in RP3 families.PMID 10737996Read ↗

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

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

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

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.Semantic proximity Read ↗

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.Semantic proximity Read ↗

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

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

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Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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