Article
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Nature genetics - 1 Feb 1994
Hanson I M, Fletcher J M, Jordan T, Brown A, Taylor D, Adams R J, Punnett H H, van Heyningen V
Abstract excerpt
Mutation or deletion of the PAX6 gene underlies many cases of aniridia. Three lines of evidence now converge to implicate PAX6 more widely in anterior segment malformations including Peters' anomaly. First, a child with Peters' anomaly is deleted for one copy of PAX6. Second, affected members of...
Topics
- Amino Acid Sequence
- Animals
- Anterior Eye Segment
- Base Sequence
- Cell Line, Transformed
- Chromosomes, Human, Pair 11
- Corneal Opacity
- DNA Mutational Analysis
- DNA-Binding Proteins
- Eye Proteins
- Female
- Gene Deletion
- Homeodomain Proteins
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Mice