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

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

American journal of ophthalmology - 1 Jan 1996

Souied E, Soubrane G, Benlian P, Coscas G J, Gerber S, Munnich A, Kaplan J

Abstract excerpt

PURPOSE: To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. Because clinical heterogeneity was observed in this family, with some members affected with retinitis punctata albescens and one member affected with features typical of retinitis pigmentosa, we analyzed the apolipoprotein E gene to elucidate this unusual intrafamilial...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amino Acid Sequence
Share to Base Sequence

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

Share to Infant

Share to Membrane Proteins

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 8554077
DOI: 10.1016/s0002-9394(14)70530-6

Genes

ROM1

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.PMID 8554077Read ↗

Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.Semantic proximity Read ↗

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

Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.Semantic proximity Read ↗

Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.Semantic proximity Read ↗

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.Semantic proximity Read ↗

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.Semantic proximity Read ↗

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.Semantic proximity Read ↗

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].Semantic proximity Read ↗

[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].Semantic proximity Read ↗

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.Semantic proximity Read ↗

An increased incidence of apolipoprotein E2/E2 and E4/E4 in retinitis pigmentosa.Semantic proximity Read ↗

Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients.Semantic proximity Read ↗

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