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 this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.