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Article

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Nature genetics - 1 Aug 2000

Vervoort R, Lennon A, Bird A C, Tulloch B, Axton R, Miano M G, Meindl A, Meitinger T, Ciccodicola A, Wright A F

Abstract excerpt

The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10-20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa (XLRP). The mutations predominantly affected a domain homologous to RCC1, a guanine nucleotide exchange factor for the small GTPase Ran, although they were present in fewer than the 70-75% of XLRP patients predicted from linkage...

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Source

Identifiers

PMID: 10932196
DOI: 10.1038/78182

Genes

RPGR
RCC1

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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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.PMID 10932196Read ↗

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

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

Novel mutations of the RPGR gene in RP3 families.Semantic proximity Read ↗

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

A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.Semantic proximity Read ↗

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

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