• admin@ataxiatelangiectasia.es
אטקסיה טלנגיאקטסיה
  • הַתחָלָה
  • מה זה A-T?
    • A four-decade disease detective
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
    • Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.
    • Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
    • ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
    • Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
    • Genomic Organization of the ATM gene.
    • Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without causing a neurological phenotype.
    • The genetic defect in ataxia-telangiectasia.
    • The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle.

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    אטקסיה טלנגיאקטסיה
      • הַתחָלָה
      • מה זה A-T?
      • admin@ataxiatelangiectasia.es