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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

โœ Scribed by Glaser, Tom; Walton, David S.; Maas, Richard L.

Book ID
109918529
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
931 KB
Volume
2
Category
Article
ISSN
1061-4036

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This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the o