Article
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
Journal of medical genetics - 1 Apr 1997
Axton R, Hanson I, Danes S, Sellar G, van Heyningen V, Prosser J
Abstract excerpt
Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. Mutations were detected in 90% of the cases. Three mutation detection techniques were used to determine if one method was superior for this gene. The protein...
Topics
- Aniridia
- DNA
- DNA-Binding Proteins
- Eye Proteins
- Female
- Gene Frequency
- Homeodomain Proteins
- Humans
- Male
- Mutation
- PAX6 Transcription Factor
- Paired Box Transcription Factors