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

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Science (New York, N.Y.) - 10 Jun 1994

Kajiwara K, Berson E L, Dryja T P

Abstract excerpt

In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Sequence
Share to Base Sequence

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

Share to Genetic Linkage

Share to Heterozygote

Share to Membrane Proteins

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 8202715
DOI: 10.1126/science.8202715

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.PMID 8202715Read ↗

Mutation analysis of the ROM1 gene in 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 ↗

Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance.Semantic proximity Read ↗

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.Semantic proximity Read ↗

Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Semantic proximity Read ↗

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).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 ↗

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

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

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

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

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