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Article

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

American journal of human genetics - 1 Nov 2003

Sharon Dror, Sandberg Michael A, Rabe Vivian W, Stillberger Melissa, Dryja Thaddeus P, Berson Eliot L

Abstract excerpt

We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diag...

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Topics

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Share to Chromosomes, Human, X
Share to Dark Adaptation
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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 Retinitis Pigmentosa

Share to Visual Acuity

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 14564670
DOI: 10.1086/379379
PMCID: PMC1180492

Genes

RPGR
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14564670-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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