Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

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Article

Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Apr 1994

Jacobson S G, Kemp C M, Cideciyan A V, Macke J P, Sung C H, Nathans J

Abstract excerpt

PURPOSE: To understand the pathophysiology of retinitis pigmentosa caused by mutations in the rhodopsin gene that lead to truncation of the protein. METHODS: Heterozygotes with the glutamine-64-to-ter (Q64ter), the intron 4 splice site, and the glutamine-344-to-ter (Q344ter) mutations in the rhod...

Topics

Adolescent
Adult
Aged
Child
Codon
Dark Adaptation
Electroretinography
Female
Humans
Male
Middle Aged
Mutation
Phenotype
RNA Splicing
Retinal Degeneration
Retinal Rod Photoreceptor Cells
Retinitis Pigmentosa
Rhodopsin

Source

Open in PubMed

Identifiers

PMID: 8163341

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8163341-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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