Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).

doi:10.1016/s0002-9394(14)73815-2

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Article

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).

American journal of ophthalmology - 1 Jan 1995

Lam B L, Vandenburgh K, Sheffield V C, Stone E M

Abstract excerpt

PURPOSE: We identified genetic mutations and characterized their associated phenotypes in patients with retinitis pigmentosa. METHODS: Patients with retinitis pigmentosa were prospectively examined and screened for genetic mutations. RESULTS: A 46-year-old man with retinitis pigmentosa was found...

Topics

Adult
Amino Acid Sequence
Arginine
Base Sequence
Codon
DNA
Electroretinography
Fundus Oculi
Genes, Dominant
Humans
Intermediate Filament Proteins
Male
Membrane Glycoproteins
Middle Aged
Molecular Sequence Data
Mutation
Nerve Tissue Proteins
Neuropeptides

Source

Open in PubMed

Identifiers

PMID: 7825692
DOI: 10.1016/s0002-9394(14)73815-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7825692-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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