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Article

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jun 2003

Bessant David A R, Holder Graham E, Fitzke Frederick W, Payne Annette M, Bhattacharya Shomi S, Bird Alan C

Abstract excerpt

BACKGROUND: We previously reported an Ser50Thr mutation in the NRL gene as a cause of autosomal dominant retinitis pigmentosa. OBJECTIVE: To determine the characteristic features of the autosomal dominant retinitis pigmentosa phenotype associated with the NRL Ser50Thr mutation in affected individ...

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Source

Identifiers

PMID: 12796249
DOI: 10.1001/archopht.121.6.793

Genes

NRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12796249-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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