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Article

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

Molecular vision - 17 Oct 2007

Gire Anisa I, Sullivan Lori S, Bowne Sara J, Birch David G, Hughbanks-Wheaton Dianna, Heckenlively John R, Daiger Stephen P

Abstract excerpt

PURPOSE: Mutations in the orphan nuclear receptor gene NR2E3 have been found to cause both recessive and dominant retinopathies. The purpose of this study was to determine the prevalence of the recently described Gly56Arg mutation in a well characterized cohort of families with autosomal dominant retinitis pigmentosa (adRP). METHODS: A cohort of 215 families with adRP which have already been screened for...

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PMID: 17982421

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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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The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.PMID 17982421Read ↗

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