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Article

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Oct 2006

Sullivan Lori S, Bowne Sara J, Seaman C Robyn, Blanton Susan H, Lewis Richard A, Heckenlively John R, Birch David G, Hughbanks-Wheaton Dianna, Daiger Stephen P

Abstract excerpt

PURPOSE: To determine whether genomic rearrangements in the PRPF31 (RP11) gene are a frequent cause of autosomal dominant retinitis pigmentosa (adRP) in a cohort of patients with adRP. METHODS: In a cohort of 200 families with adRP, disease-causing mutations have previously been identified in 107 families. To determine the cause of disease in the remaining families, linkage testing was performed with markers for...

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Identifiers

PMID: 17003455
DOI: 10.1167/iovs.06-0440
PMCID: PMC2778205

Genes

PRPF31

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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Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.PMID 17003455Read ↗

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