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Article

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.

Investigative ophthalmology & visual science - 1 Apr 2003

Bader Ingrid, Brandau Oliver, Achatz Helene, Apfelstedt-Sylla Eckart, Hergersberg Martin, Lorenz Birgit, Wissinger Bernd, Wittwer Bärbel, Rudolph Günther, Meindl Alfons, Meitinger Thomas

Abstract excerpt

PURPOSE: A comprehensive screening was conducted for RP2 and retinitis pigmentosa GTPase regulator (RPGR) gene mutations including RPGR exon ORF15 in 58 index patients. The frequency of RPGR mutations was assessed in families with definite X-linked recessive disease (xlRP), and a strategy for analyzing the highly repetitive mutational hot spot in exon ORF15 is provided. METHODS: Fifty-eight apparently unrelated...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to GTP-Binding Proteins

Share to Intracellular Signaling Peptides and Proteins

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 12657579
DOI: 10.1167/iovs.02-0605

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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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.PMID 12657579Read ↗

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