• admin@ataxiatelangiectasia.es
Ataxia-telangiectasia
  • Início
  • O que é A-T?
  • Notícias
    • Ataxia telangiectasia: more variation at clinical and cellular levels.
    • Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
    • Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
    • Genetics of ataxia telangiectasia in a highly consanguineous population

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    Ataxia-telangiectasia
      • Início
      • O que é A-T?
      • Notícias
      • admin@ataxiatelangiectasia.es