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Article

Polymorphisms and rare sequence variants at the ROM1 locus.

Human molecular genetics - 1 Nov 1993

Bascom R A, Liu L, Humphries P, Fishman G A, Murray J C, McInnes R R

Abstract excerpt

Rom-1 is an integral membrane protein of the rod photoreceptor outer segment. The ROM1 gene is located on human chromosome 11q13, a region to which the loci of four degenerative retinopathies have been mapped. To identify alleles of ROM1, we have screened the DNA of 57 controls and 180 patients with inherited retinopathies. Six ROM1 polymorphisms were identified: two in non-coding sequences (C-7T, T insertion...

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Source

Identifiers

PMID: 7904211
DOI: 10.1093/hmg/2.11.1975

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

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Research trail→

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Polymorphisms and rare sequence variants at the ROM1 locus.PMID 7904211Read ↗

Mutation analysis of the ROM1 gene in retinitis pigmentosa.Semantic proximity Read ↗

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.Semantic proximity Read ↗

Putative association of a mutant ROM1 allele with retinitis pigmentosa.Semantic proximity Read ↗

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.Semantic proximity Read ↗

Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.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 ↗

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).Semantic proximity Read ↗

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.Semantic proximity Read ↗

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

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.Semantic proximity Read ↗

A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.Semantic proximity Read ↗

The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism.Semantic proximity Read ↗

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