Article
Mutations associated with variant phenotypes in ataxia-telangiectasia.
American journal of human genetics - 1 Aug 1996
McConville C M, Stankovic T, Byrd P J, McGuire G M, Yao Q Y, Lennox G G, Taylor M R
Abstract excerpt
We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp i...
Topics
- Adolescent
- Adult
- Age of Onset
- Ataxia Telangiectasia
- Base Sequence
- Child
- Child, Preschool
- Female
- Genetic Variation
- Genotype
- Haplotypes
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Phenotype