Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia

J Neurol. 2013 Jan;260(1):324-6. doi: 10.1007/s00415-012-6738-5. Epub 2012 Nov 11.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Africa
  • Animals
  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia Mutated Proteins
  • Cell Cycle Proteins / genetics*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Family Health*
  • Humans
  • Male
  • Mutation / genetics*
  • Neurologic Examination
  • Protein Serine-Threonine Kinases / genetics*
  • Sequence Analysis, Protein
  • Tumor Suppressor Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases