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Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Molecular vision - 24 Jan 2003

Acar Ceren, Mears Alan J, Yashar Beverly M, Maheshwary Anjali S, Andreasson Sten, Baldi Alfonso, Sieving Paul A, Iannaccone Alessandro, Musarella Maria A, Jacobson Samuel G, Swaroop Anand

Abstract excerpt

PURPOSE: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). METHODS: Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration that causes...

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Identifiers

PMID: 12552256

Genes

NRL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.PMID 12552256Read ↗

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