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Article

Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.

The British journal of ophthalmology - 1 Dec 1994

Bell C, Converse C A, Hammer H M, Osborne A, Haites N E

Abstract excerpt

Retinitis pigmentosa (RP) is the name given to a group of disorders, both clinically and genetically heterogeneous, that primarily affect the photoreceptor function of the eye. Mutations in the genes encoding for rhodopsin, RDS-peripherin, or the beta subunit of the cGMP phosphodiesterase enzyme can be responsible for the phenotype. In this study the rhodopsin gene has been screened for mutations in a panel of RP...

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Identifiers

PMID: 7819178
DOI: 10.1136/bjo.78.12.933
PMCID: PMC504996

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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