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Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

✍ Scribed by Larry Baum; C.P. Pang; Dorothy S.P. Fan; Priscilla M.K. Poon; Y.F. Leung; John K.H. Chua; Dennis S.C. Lam


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
14 KB
Volume
14
Category
Article
ISSN
1059-7794

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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

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Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich P

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