Article
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
Ophthalmic genetics - 1 Mar 1998
Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B
Abstract excerpt
PURPOSE: To characterize the clinical phenotype, with emphasis on electrophysiology, of members of a Swedish family with autosomal dominant retinitis pigmentosa due to a novel mutation, F211L, in the peripherin/RDS gene. METHODS: Nine patients with autosomal dominant retinitis pigmentosa and two...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Child
- Dark Adaptation
- Electroretinography
- Fundus Oculi
- Genes, Dominant
- Genetic Variation
- Humans
- Intermediate Filament Proteins
- Membrane Glycoproteins
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Peripherins