Article
Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.
Ophthalmology - 1 Dec 1991
Richards J E, Kuo C Y, Boehnke M, Sieving P A
Abstract excerpt
The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of autosomal dominant retinitis pigmentosa (RP) in 16 family members. DNA sequence determination confirms the presence of the same mutation reported previously for one family apparently unr...
Topics
- Adult
- Aged
- Arginine
- Base Sequence
- DNA
- Dark Adaptation
- Electroretinography
- Female
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Retinitis Pigmentosa
- Rhodopsin
- Sensory Thresholds