Article
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.
Ophthalmology - 1 Dec 1991
Stone E M, Kimura A E, Nichols B E, Khadivi P, Fishman G A, Sheffield V C
Abstract excerpt
Mutations in the rhodopsin gene are associated with as many as one quarter of all cases of autosomal dominant retinitis pigmentosa (RP). A number of different rhodopsin mutations have been reported but only the proline to histidine mutation in codon 23 (Pro-23-His) has been well characterized cli...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA
- Female
- Histidine
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Proline
- Retinal Degeneration