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Article

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

American journal of human genetics - 1 Apr 2002

Demirci F Yesim K, Rigatti Brian W, Wen Gaiping, Radak Amy L, Mah Tammy S, Baic Corrine L, Traboulsi Elias I, Alitalo Tiina, Ramser Juliane, Gorin Michael B

Abstract excerpt

X-linked cone-rod dystrophy (COD1) is a retinal disease that primarily affects the cone photoreceptors; the disease was originally mapped to a limited region of Xp11.4. We evaluated the three families from our original study with new markers and clinically reassessed all key recombinants; we determined that the critical intervals in families 2 and 3 overlapped the RP3 locus and that a status change (from affected...

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Source

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Identifiers

PMID: 11857109
DOI: 10.1086/339620
PMCID: PMC379101

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.PMID 11857109Read ↗

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.Semantic proximity Read ↗

Mutations in the RPGR gene cause X-linked cone dystrophy.Semantic proximity Read ↗

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.Semantic proximity Read ↗

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone OpsinsSemantic proximity Read ↗

Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.Semantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.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 ↗

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.Semantic proximity Read ↗

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.Semantic proximity Read ↗

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.Semantic proximity Read ↗

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.Semantic proximity Read ↗

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.Semantic proximity Read ↗

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