Ataxia-telangiectasia with novel splicing mutations in the ATM gene

Ann Lab Med. 2014 Jan;34(1):80-4. doi: 10.3343/alm.2014.34.1.80. Epub 2013 Dec 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Base Sequence
  • Chromosome Inversion
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Karyotyping
  • Magnetic Resonance Imaging
  • Mutation
  • RNA Splicing
  • Translocation, Genetic

Substances

  • Ataxia Telangiectasia Mutated Proteins