Article
PAX6 mutations in aniridia.
Human molecular genetics - 1 Jul 1993
Hanson I M, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V
Abstract excerpt
Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions. Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia...
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