A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA

J Med Genet. 2002 Jan;39(1):57-61. doi: 10.1136/jmg.39.1.57.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine*
  • Adult
  • Ataxia Telangiectasia / genetics*
  • Female
  • Genetic Carrier Screening*
  • Genotype
  • Guanine*
  • Humans
  • Male
  • Middle Aged
  • Mutagenesis, Insertional / genetics*
  • Pedigree
  • Point Mutation / genetics*

Substances

  • Guanine
  • Adenine