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Article

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Nature - 25 Jan 1990

Dryja T P, McGee T L, Reichel E, Hahn L B, Cowley G S, Yandell D W, Sandberg M A, Berson E L

Abstract excerpt

The gene for autosomal dominant retinitis pigmentosa in a large pedigree of Irish origin has recently been found to be linked to an anonymous polymorphic sequence, D3S47 (C17), from the long arm of chromosome 3. As the gene coding for rhodopsin is also assigned to the long arm of chromosome 3 and is expressed in rod photoreceptors that are affected early in this blinding disease, we searched for a mutation of the...

Topics

Adult
Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 3
Codon
Electroretinography
Eye Proteins
Humans
Molecular Sequence Data
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Photoreceptor Cells

Retinal Pigments

Retinitis Pigmentosa

Rhodopsin

Rod Opsins

Source

Identifiers

PMID: 2137202
DOI: 10.1038/343364a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2137202-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.PMID 2137202Read ↗

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.Semantic proximity Read ↗

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.Semantic proximity Read ↗

Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.Semantic proximity Read ↗

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.Semantic proximity Read ↗

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.Semantic proximity Read ↗

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family.Semantic proximity Read ↗

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