Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

doi:10.1001/archopht.1992.01080130056026

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Article

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 1992

Fishman G A, Stone E M, Sheffield V C, Gilbert L D, Kimura A E

Abstract excerpt

Six members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine transition mutation in the second nucleotide of codon 17 in the rhodopsin gene that resulted in a threonine to methionine change. Three members from another family with autosomal dominant retinitis pigmentosa showed a guanine-to-adenine transition mutation in the first nucleotide of codon 182 in the...

Topics

Adolescent
Adult
Aged
Amino Acids
Codon
DNA
Dark Adaptation
Electrophoresis, Polyacrylamide Gel
Electroretinography
Female
Fundus Oculi

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, Dominant

Humans

Male

Middle Aged

Mutation

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 1731723
DOI: 10.1001/archopht.1992.01080130056026

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1731723-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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