Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 accura...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Primers
Share to Eye Proteins
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Sequence Analysis, DNA

Share to South Africa

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 1 Sept 2026. Prepared record publication-12859409-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.Semantic proximity Read ↗

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.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 ↗

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

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

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important.Semantic proximity Read ↗

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.Semantic proximity Read ↗

Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.