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Article

Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.

Ophthalmic genetics - 1 Jun 2000

Tzekov R T, Sohocki M M, Daiger S P, Birch D G

Abstract excerpt

Our aim was to describe the visual function characteristics of affected members from two unrelated families with different dominant mutations in the CRX gene. Standard full-field ERGs and high-intensity a-wave series were obtained. In addition, in most subjects, dark-adapted (DA) thresholds, colo...

Topics

Adult
Aged
Child, Preschool
DNA Mutational Analysis
Electroretinography
Female
Genotype
Homeodomain Proteins
Humans
Male
Middle Aged
Mutagenesis, Insertional
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Photoreceptor Cells, Vertebrate

Point Mutation

Retinitis Pigmentosa

Trans-Activators

Source

Identifiers

PMID: 10916183

Genes

CRX
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-10916183-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.PMID 10916183Read ↗

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