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Nonsense mutation in the homeobox region of the aniridia gene

โœ Scribed by Aruna Devi Martha; Robert E. Ferrell; Grady F. Saunders

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
505 KB
Volume
3
Category
Article
ISSN
1059-7794

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Communicated by Sawio L. C. WOO Aniridia (iris hypoplasia) is an autosomal dominant congenital disorder of the eye. Mutations in the human aniridia (PAX61 gene have now been identified in many patients from various ethnic groups. In the study reported here we describe PAX6 mutations in one sporadic