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

Martin F. Lavin, Yosef Shiloh

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)459-464
Number of pages6
JournalCurrent Opinion in Immunology
Volume8
Issue number4
DOIs
StatePublished - Aug 1996

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