Article
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
American journal of human genetics - 1 Sept 1995
Mirzayans F, Pearce W G, MacDonald I M, Walter M A
Abstract excerpt
Autosomal dominant keratitis (ADK) is an eye disorder chiefly characterized by corneal opacification and vascularization and by foveal hypoplasia. Aniridia (shown recently to result from mutations in the PAX6 gene) has overlapping clinical findings and a similar pattern of inheritance with ADK. On the basis of these similarities, we used a candidate-gene approach to investigate whether mutations in the PAX6 gene...
Topics
- DNA-Binding Proteins
- Eye Proteins
- Female
- Genetic Linkage
- Haplotypes
- Homeodomain Proteins
- Humans
- Keratitis
- Lod Score
- Male
- Mutation
- PAX6 Transcription Factor