Article
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Ophthalmic genetics - 1 Sept 1997
Bareil C, Hamel C, Arnaud B, Demaille J, Claustres M
Abstract excerpt
Because mutations in the peripherin/RDS gene have been found in retinal dystrophies involving the macula, we examined various types of macular dystrophies from southern France to characterize sequence variations that may be associated with these conditions. DNA sequence analysis of the full codin...
Topics
- Adult
- Aged
- Alleles
- Base Sequence
- Child
- DNA Mutational Analysis
- Female
- Fundus Oculi
- Humans
- Intermediate Filament Proteins
- Macular Degeneration
- Male
- Membrane Glycoproteins
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pedigree