Article
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Journal of medical genetics - 1 Jan 1998
Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J
Abstract excerpt
The WT1 gene, one of the genes responsible for Wilms tumour, is thought to play a crucial role in the development of the kidneys and gonads. This gene encodes four protein isoforms resulting from two alternative splicing sites, one of which involves inclusion or exclusion of lysine, threonine, and serine (KTS) between the third and fourth zinc finger domains. WT1 is virtually always mutationally inactivated in...
Topics
- Adolescent
- Adult
- Animals
- COS Cells
- Child, Preschool
- DNA Mutational Analysis
- DNA-Binding Proteins
- Exons
- Genes, Wilms Tumor
- Humans
- Infant
- Introns
- Mutation
- Polymerase Chain Reaction