Article
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.
Ophthalmic genetics - 1 Sept 1999
Bareil C, Hamel C, Pallarès-Ruiz N, Arnaud B, Demaille J, Claustres M
Abstract excerpt
PURPOSE: Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, were shown to be the most common cause of autosomal retinitis pigmentosa (RP). In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosomal dominant RP (adRP=29), RP simplex (6), or unclassified RP (17). METHODS: The full coding and...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Female
- France
- Gene Duplication
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree