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Article

Independent origin and restricted distribution of RPGR deletions causing XLPRA.

The Journal of heredity - 1 Jan 2007

Zangerl Barbara, Johnson Jennifer L, Acland Gregory M, Aguirre Gustavo D

Abstract excerpt

Canine X-linked progressive retinal atrophy (XLPRA) is an inherited blinding disorder caused by mutations in the ORF15 of the RPGR gene and homolog to human retinitis pigmentosa 3 (RP3). The disease is observed in 2 variations, XLPRA1 in Siberian husky and samoyed and XLPRA2 derived from mongrel...

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Source

Identifiers

PMID: 17646274
DOI: 10.1093/jhered/esm060

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17646274-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Independent origin and restricted distribution of RPGR deletions causing XLPRA.PMID 17646274Read ↗

Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3.Semantic proximity Read ↗

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Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals.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 ↗

An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers.Semantic proximity Read ↗

Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.Semantic proximity Read ↗

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

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

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