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Analysis of aniridia patients for mutations in the PAX6 gene

โœ Scribed by M. Wolf; B. Zabel; B. Lorenz; A. Blankenagel; M. B. Ghorbani; O. Schwenn; G. Wildhardt


Publisher
Springer
Year
1998
Tongue
German
Weight
120 KB
Volume
95
Category
Article
ISSN
0941-293X

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Mutation in the PAX6 gene in twenty pati
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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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โœ Aruna Martha; Louise C. Strong; Robert E. Ferrell; Grady F. Saunders ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 521 KB

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