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

doi:10.1136/bjo.78.12.933

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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...

Topics

Base Sequence
Exons
Female
Humans
Introns
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational
Retinitis Pigmentosa
Rhodopsin
Scotland

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