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
Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia
β 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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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
The Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long ar