Review
doi: 10.1016/s0952-7915(96)80030-6.
Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction
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- PMID: 8794004
- DOI: 10.1016/s0952-7915(96)80030-6
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Review
Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction
Curr Opin Immunol.
1996 Aug.
Abstract
The gene responsible for the defect in the human genetic disorder ataxia-telangiectasia, ATM, was cloned recently. The part of the gene coding for a phosphatidylinositol 3-kinase domain showed it to be related to a family of genes involved in signal transduction, cell cycle control and the response to DNA damage. The elucidation of the role of the ATM gene product will provide valuable insight into the radiosensitivity, cancer predisposition, immunodeficiency and neuropathology that characterize this syndrome.
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