Article
The human PAX6 gene is mutated in two patients with aniridia.
Nature genetics - 1 Aug 1992
Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V
Abstract excerpt
Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in th...
Topics
- Animals
- Aniridia
- Base Sequence
- Cell Line
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- DNA
- Exons
- Humans
- Mice
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phenotype
- Polymerase Chain Reaction
- Sequence Deletion