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 family. Sequencing revealed that the mutation affected nucleotides 3245-3247, codon 1082, and changed the sequence from ATC...
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