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Article

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

American journal of human genetics - 1 Jan 1998

Seymour A B, Dash-Modi A, O'Connell J R, Shaffer-Gordon M, Mah T S, Stefko S T, Nagaraja R, Brown J, Kimura A E, Ferrell R E, Gorin M B

Abstract excerpt

Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting primarily the cone photoreceptors. The COD1 locus originally was localized, by the study of three independent families, to a region between Xp11.3 and Xp21.1, encompassing the retinitis pigmentosa (RP) 3 locus. We have refined the COD1 locus to a limited region of Xp11.4, using two families reported elsewhere and a new extended family....

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Identifiers

PMID: 9443860
DOI: 10.1086/301667
PMCID: PMC1376794

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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Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.PMID 9443860Read ↗

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

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

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