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The human PAX6 gene is mutated in two patients with aniridia

โœ Scribed by Jordan, Tim; Hanson, Isabel; Zaletayev, Dmitri; Hodgson, Shirley; Prosser, Jane; Seawright, Anne; Hastie, Nicholas; van Heyningen, Veronica


Book ID
109916625
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
650 KB
Volume
1
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

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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

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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