Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.

Retina (Philadelphia, Pa.) - 1 Jan 1996

Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M

Abstract excerpt

OBJECTIVE: Mutations of the peripherin/RDS gene have been reported in several kinds of retinal dystrophy, and they show a variety of manifestations. The authors identified a novel Val200Glu mutation of the peripherin/RDS gene in a Japanese family with autosomal dominant cone-rod dystrophy (CRD). This report describes a genotype-phenotype correlation of the Val200Glu mutation. PATIENTS AND METHODS: Fifteen members...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to DNA
Share to Genotype

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

Share to Membrane Glycoproteins

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 8912967
DOI: 10.1097/00006982-199616050-00007

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 cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.PMID 8912967Read ↗

Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS GeneSemantic proximity Read ↗

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.Semantic proximity Read ↗

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

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.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 ↗

Analysis of peripherin/RDS gene for Japanese retinal dystrophies.Semantic proximity Read ↗

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

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic miceSemantic proximity Read ↗

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.Semantic proximity Read ↗

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.