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Article

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

Clinical genetics - 1 Aug 2003

Rebello G, Vorster A, Greenberg J, Coutts N, Roberts L, Ehrenreich L, Gama D, Ramesar R

Abstract excerpt

Analysis of exon ORF15 of the RPGR gene has revealed a novel mutation in a South African family with X-linked retinitis pigmentosa (XLRP), which has implications for the rest of the family in terms of pre-symptomatic testing. The ability to test for this mutation will be beneficial for the accurate determination of carrier status in female relatives who may have been unaware of their risk before this study was...

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Source

Identifiers

PMID: 12859409
DOI: 10.1034/j.1399-0004.2003.00090.x

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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Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.PMID 12859409Read ↗

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