Article
PAX6 mutations reviewed.
Human mutation - 1 Jan 1998
Prosser J, van Heyningen V
Abstract excerpt
Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia. No locus other than chromosome 11p13 has been implicated in aniridia, and PAX6 is clea...
Topics
- Aniridia
- Chromosomes, Human, Pair 11
- Codon, Nonsense
- Conserved Sequence
- DNA Mutational Analysis
- DNA-Binding Proteins
- Evolution, Molecular
- Eye Diseases, Hereditary
- Eye Proteins
- Homeodomain Proteins
- Humans
- Mutation
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Phenotype
- Repressor Proteins
- Transcription Factors