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ataksi telenjiektazi
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  • A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient
  • A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
  • Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
  • Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
  • ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
  • ATM mutation spectrum in Russian children with ataxia-telangiectasia.
  • ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
  • Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
  • Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations
  • Clinical variability in ataxia-telangiectasia.

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