Genotype-phenotype relationships in ataxia-telangiectasia and variants.

  title={Genotype-phenotype relationships in ataxia-telangiectasia and variants.},
  author={Shlomit Gilad and Luciana Chessa and Rami Khosravi and Paul Russell and Yaron Galanty and Maria Piane and Richard A. Gatti and Timothy J. Jorgensen and Y. Shiloh and Anat Bar-Shira},
  journal={American journal of human genetics},
  volume={62 3},
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. A-T cells are sensitive to ionizing radiation and radiomimetic chemicals and fail to activate cell-cycle checkpoints after treatment with these agents. The responsible gene, ATM, encodes a large protein kinase with a phosphatidylinositol 3-kinase-like domain. The typical A-T phenotype is caused, in most… CONTINUE READING


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