A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

doi:10.1016/s0161-6420(95)31029-9

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Article

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Ophthalmology - 1 Feb 1995

Gorin M B, Jackson K E, Ferrell R E, Sheffield V C, Jacobson S G, Gass J D, Mitchell E, Stone E M

Abstract excerpt

BACKGROUND: Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. The authors initially examined a large family affected with both peripheral and macular degeneration, inherited as an autosomal do...

Topics

Adolescent
Adult
Aged
Amino Acid Sequence
Arginine
Base Sequence
Chromosome Deletion
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Eye Proteins
Female
Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fundus Oculi

Humans

Intermediate Filament Proteins

Macular Degeneration

Male

Membrane Glycoproteins

Source

Open in PubMed

Identifiers

PMID: 7862413
DOI: 10.1016/s0161-6420(95)31029-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7862413-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.PMID 7862413Read ↗

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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