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Article

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

Human mutation - 1 Jan 1994

Grüning G, Millan J M, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, 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: 8019570
DOI: 10.1002/humu.1380030326

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.

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Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.PMID 8019570Read ↗

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

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

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

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.Semantic proximity Read ↗

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

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

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

The role of the peripherin/RDS gene in retinal dystrophies.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 three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.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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