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Article

Effects of PAX6 mutations on retinal function: an electroretinographic study.

American journal of ophthalmology - 1 Aug 1998

Tremblay F, Gupta S K, De Becker I, Guernsey D L, Neumann P E

Abstract excerpt

PURPOSE: To investigate the retinal function in aniridic patients with documented PAX6 mutations to determine the range of electroretinogram abnormalities in aniridic patients and to relate electroretinogram findings with specific PAX6 mutations. METHODS: Eleven patients with typical aniridia and...

Topics

Adolescent
Adult
Aniridia
Child
DNA-Binding Proteins
Electroretinography
Eye Proteins
Homeodomain Proteins
Humans
Infant
Middle Aged
Mutation
PAX6 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paired Box Transcription Factors

Phenotype

Repressor Proteins

Retina

Source

Identifiers

PMID: 9727515
DOI: 10.1016/s0002-9394(98)00190-1

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9727515-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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