Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.

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Article

Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Aug 1990

Ringens P J, Fang M, Shinohara T, Bridges C D, Lerea C L, Berson E L, Dryja T P

Abstract excerpt

We screened 526 unrelated patients with autosomal dominant, autosomal recessive, or simplex retinitis pigmentosa for evidence of mutations of the genes encoding S-antigen (S-Ag), interstitial retinol binding protein (IRBP), and the alpha-subunit of cone-specific transducin. Restriction fragment length polymorphisms (RFLPs) were identified at each of these loci. Within each set of patients with a particular...

Topics

Alleles
Antigens
Arrestin
Chi-Square Distribution
Chromosome Deletion
DNA
DNA Probes
Eye Proteins
Female
Humans
Leukocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Linkage Disequilibrium

Male

Mutation

Pedigree

Polymorphism, Restriction Fragment Length

Retinitis Pigmentosa

Retinol-Binding Proteins

Source

Open in PubMed

Identifiers

PMID: 1974891

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1974891-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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