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
β¦ LIBER β¦
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
β Scribed by Nicola J. Murton; Ishtiaq Rehman; Graeme C.M. Black; Chris F. Inglehearn; Amanda J. Churchill
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 13 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Identification of a novel PAX6 gene muta
β
Iman Sahly; Marc Abitbol; Claudine Laurent; Imad Ghazi; Florence Ribeaudeau; Mic
π
Article
π
1996
π
John Wiley and Sons
π
English
β 119 KB
π 2 views
Run-on mutation and three novel nonsense
β
Larry Baum; C.P. Pang; Dorothy S.P. Fan; Priscilla M.K. Poon; Y.F. Leung; John K
π
Article
π
1999
π
John Wiley and Sons
π
English
β 14 KB
π 2 views
A de novo nonsense mutation of PAX6 gene
β
Claudio Graziano; Angela V. D'Elia; Laura Mazzanti; Filomena Moscano; Simonetta
π
Article
π
2007
π
John Wiley and Sons
π
English
β 122 KB
π 2 views
Genetic analysis of chromosome 11p13 and
β
David O. Robinson; Rachel J. Howarth; Kathleen A. Williamson; Veronica van Heyni
π
Article
π
2008
π
John Wiley and Sons
π
English
β 327 KB
π 1 views
## Abstract A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other malformations (13) was analysed for mutations, initially by karyotyping and targeted FISH analysis of chromosome 11p13. These m
A novel mutation in the DIA1 gene in a p
β
Deniz Yilmaz; ΓzgΓΌr ΓogΗ§ulu; Ferda Ozkinay; Kaan Kavakli; Dirk Roos
π
Article
π
2005
π
John Wiley and Sons
π
English
β 41 KB
π 2 views
Novel mutation in the RYR1 gene (R2454C)
β
Martin Gencik; Alexandra Gencik; Wilhelm Mortier; JΓΆrg T. Epplen
π
Article
π
2000
π
John Wiley and Sons
π
English
β 10 KB
π 2 views