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Article

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Sept 2007

Prokisch Holger, Hartig Monika, Hellinger Rosa, Meitinger Thomas, Rosenberg Thomas

Abstract excerpt

PURPOSE: To perform a nation-wide elucidation of the prevalence and the mutation spectrum in X-linked retinitis pigmentosa (XLRP), and to make genotype-phenotype comparisons. METHODS: The study comprised 96 affected males and 149 female carriers from 42 families representing all identified XLRP individuals in the Danish population (5.4 million inhabitants). RPGR and RP2 were screened for mutations in 34 families,...

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Source

Identifiers

PMID: 17724181
DOI: 10.1167/iovs.07-0071

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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