Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.

  title={Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.},
  author={Matthias Platzer and G. Rotman and David M Bauer and Tamar Uziel and K. V. Savitsky and Anat Bar-Shira and Shlomit Gilad and Y. Shiloh and Andr{\'e} Rosenthal},
  journal={Genome research},
  volume={7 6},
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. The genomic organization of the A-T gene, designated ATM, was established recently. To date, more than 100 A-T-associated mutations have been reported in the ATM gene that do not support the existence of one or several mutational hotspots. To allow genotype/phenotype correlations it will be important to find… CONTINUE READING


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