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Article

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

Genomics - 1 Feb 1993

Farrar G J, Kenna P, Jordan S A, Kumar-Singh R, Humphries M M, Sharp E M, Sheils D, Humphries P

Abstract excerpt

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Topics

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Share to Chromosomes, Human, Pair 6
Share to DNA, Single-Stranded
Share to Genes, Dominant
Share to Intermediate Filament Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Glycoproteins

Share to Neuropeptides

Share to Peripherins

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 8449524

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.PMID 8449524Read ↗

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.Semantic proximity Read ↗

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophySemantic proximity Read ↗

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.Semantic proximity Read ↗

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.Semantic proximity Read ↗

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.Semantic proximity Read ↗

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

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.Semantic proximity Read ↗

The role of the peripherin/RDS gene in retinal dystrophies.Semantic proximity Read ↗

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.Semantic proximity Read ↗

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