Article
Functional analysis of paired box missense mutations in the PAX6 gene.
Human molecular genetics - 1 Mar 1997
Tang H K, Chao L Y, Saunders G F
Abstract excerpt
Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two...
Topics
- 3T3 Cells
- Animals
- Aniridia
- Binding Sites
- Blotting, Western
- Cloning, Molecular
- Conserved Sequence
- DNA-Binding Proteins
- Electrophoresis, Polyacrylamide Gel
- Eye Proteins
- Genes, Reporter
- Homeodomain Proteins
- Humans
- Infant
- Male
- Mice
- Mutation
- PAX6 Transcription Factor