A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.

doi:10.1001/archopht.1993.01090110078029

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993

Sullivan L J, Makris G S, Dickinson P, Mulhall L E, Forrest S, Cotton R G, Loughnan M S

Abstract excerpt

OBJECTIVE: To ascertain and characterize rhodopsin gene mutations in autosomal dominant retinitis pigmentosa and to correlate these mutations with the clinical phenotypes. METHODS: DNA was extracted from leukocytes, and the rhodopsin gene was amplified and analyzed using molecular-biological meth...

Topics

Adult
Aged
Base Sequence
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 3
Codon
DNA Primers
Electroretinography
Female
Fundus Oculi
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 8240107
DOI: 10.1001/archopht.1993.01090110078029

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8240107-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.PMID 8240107Read ↗

Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation.Semantic proximity Read ↗

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.Semantic proximity Read ↗

Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Semantic proximity Read ↗

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

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.Semantic proximity Read ↗

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

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.