Article
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
Human mutation - 1 Sept 2000
Laake K, Jansen L, Hahnemann J M, Brondum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen J H, Tucker M, Kleinerman R, Børresen-Dale A L
Abstract excerpt
The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition. In this study, 41 AT families from Denmark, Finland, Norway, and Sweden were screened for ATM mutations. The protein truncation test (PTT), fragment length and heteroduplex analyses of large (0.8-1.2 kb)...
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