Abstract：
: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 predicted to affect protein function. Mutations in Pax-6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Jordan T,Hanson I,Zaletayev D,Hodgson S,Prosser J,Seawright A,Hastie N,van Heyningen Vdoi
10.1038/ng0892-328keywords:
subject
Has Abstractpub_date
1992-08-01 00:00:00pages
328-32issue
5eissn
1061-4036issn
1546-1718journal_volume
1pub_type
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