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Article

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.

Human molecular genetics - 1 Feb 1994

Keen T J, Inglehearn C F, Kim R, Bird A C, Bhattacharya S

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

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Source

Identifiers

PMID: 8004111
DOI: 10.1093/hmg/3.2.367

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.PMID 8004111Read ↗

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

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.Semantic proximity Read ↗

Autosomal Dominant Central Areolar Choroidal Dystrophy Caused by a Mutation in Codon 142 in the Peripherin/RDS GeneSemantic proximity Read ↗

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

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.Semantic proximity Read ↗

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.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 heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.Semantic proximity Read ↗

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

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.Semantic proximity Read ↗

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

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

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