Article
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
Investigative ophthalmology & visual science - 1 Apr 2006
Neidhardt John, Barthelmes Daniel, Farahmand Firouzeh, Fleischhauer Johannes C, Berger Wolfgang
Abstract excerpt
PURPOSE: Identification of a novel rhodopsin mutation in a family with retinitis pigmentosa and comparison of the clinical phenotype to a known mutation at the same amino acid position. METHODS: Screening for mutations in rhodopsin was performed in 78 patients with retinitis pigmentosa. All exons and flanking intronic regions were amplified by PCR, sequenced, and compared to the reference sequence derived from...
Topics
- Adult
- Amino Acid Substitution
- DNA Mutational Analysis
- Electroretinography
- Female
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Mutation, Missense
- Night Blindness