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

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.

Genomics - 20 May 1995

Sakuma H, Inana G, Murakami A, Yajima T, Weleber R G, Murphey W H, Gass J D, Hotta Y, Hayakawa M, Fujiki K

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Intermediate Filament Proteins
Share to Membrane Glycoproteins
Share to Nerve Tissue Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Peripherins

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Share to Tetraspanins

Source

Identifiers

PMID: 7558016
DOI: 10.1006/geno.1995.1066

Genes

ROM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.PMID 7558016Read ↗

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

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

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

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

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

The role of the peripherin/RDS gene in retinal dystrophies.Semantic proximity Read ↗

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Semantic proximity Read ↗

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.Semantic proximity Read ↗

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

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

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

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