Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

doi:10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O

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Article

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Human mutation - 1 Jan 1997

Concannon P, Gatti R A

Abstract excerpt

The ataxia-telangiectasia mutated (ATM) gene, which is mutated in the autosomal recessive disorder ataxia-telangiectasia (AT), was isolated in 1995 by positional cloning. Although in vitro cell fusion studies had suggested that AT was genetically heterogeneous, all AT patients studied to date hav...

Topics

Ataxia Telangiectasia
Ataxia Telangiectasia Mutated Proteins
Cell Cycle Proteins
DNA-Binding Proteins
Forecasting
Heterozygote
Humans
Mutation
Protein Serine-Threonine Kinases
Proteins
Tumor Suppressor Proteins

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