Article
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
American journal of human genetics - 1 Mar 1998
Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti R A, Jorgensen T J, Shiloh Y, Bar-Shira A
Abstract excerpt
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. A-T cells are sensitive to ionizing radiation and radiomimetic chemicals and fail to activate cell-cycle...
Topics
- Adult
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Blotting, Western
- Cell Cycle Proteins
- Cell Line
- Child
- DNA-Binding Proteins
- Female
- Genotype
- Humans
- Lymphocytes
- Male
- Mutation
- Pedigree
- Phenotype