Article
Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.
European journal of human genetics : EJHG - 1 Jan 2000
Laake K, Telatar M, Geitvik G A, Hansen R O, Heiberg A, Andresen A M, Gatti R, Børresen-Dale A L
Abstract excerpt
The ATM gene is responsible for the autosomal recessive disorder Ataxia-Telangiectasia (AT). Many different mutations, located all across the gene, have been reported with a predominance of truncating mutations. By using PTT (protein truncation test) a mutation was found in one Norwegian AT famil...
Topics
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Base Sequence
- Cell Cycle Proteins
- DNA Primers
- DNA-Binding Proteins
- Female
- Founder Effect
- Heterozygote
- Homozygote
- Humans
- Male
- Mutation
- Norway
- Open Reading Frames
- Pedigree
- Protein Serine-Threonine Kinases
- Proteins