Article
Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.
The British journal of ophthalmology - 1 Aug 1993
Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gerding H, Gal A, Zrenner E
Abstract excerpt
A family is described in which an 8 base pair deletion (nucleotides 5252-5259, codons 341-343) of the rhodopsin gene cosegregates with autosomal dominant retinitis pigmentosa (adRP). The deletion results in a shift in the reading frame, causing a rhodopsin molecule extended by one residue and sub...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Carboxylic Acids
- Child, Preschool
- Electroretinography
- Female
- Fluorescein Angiography
- Frameshift Mutation
- Fundus Oculi
- Gene Deletion
- Humans
- Male
- Middle Aged