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Article

[Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene].

Medicina clinica - 18 May 2002

Trujillo Tiebas María José, Giménez Pardo Ascensión, García Sandoval Blanca, Ayuso García Carmen

Abstract excerpt

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Share to Chromosome Aberrations
Share to Electroretinography
Share to Genes, Dominant
Share to Intermediate Filament Proteins

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

Share to Peripherins

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

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Source

Identifiers

PMID: 12042139
DOI: 10.1016/s0025-7753(02)72505-0

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

[Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene].PMID 12042139Read ↗

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

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

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

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

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

[Genotype-phenotype correlation in patients with PRPH2-mutations].Semantic proximity Read ↗

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].Semantic proximity Read ↗

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