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Curr Opin Immunol. 1996 Aug;8(4):459-64.

Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction.

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Queensland Institute of Medical Research, The Bancroft Centre and Department of Surgery, University of Queensland, Post Office, Royal Brisbane Hospital, Herston, Australia.


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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