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Article

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

Human molecular genetics - 1 Dec 1993

Meins M, Grüning G, Blankenagel A, Krastel H, Reck B, Fuchs S, Schwinger E, Gal A

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

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Source

Identifiers

PMID: 8111389
DOI: 10.1093/hmg/2.12.2181

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

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.PMID 8111389Read ↗

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

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

Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS GeneSemantic proximity Read ↗

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

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.Semantic proximity Read ↗

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

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

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

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.Semantic proximity Read ↗

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

Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.Semantic proximity Read ↗

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