A novel mutation and novel features in Nijmegen breakage syndrome

J Med Genet. 2001 Feb;38(2):113-7. doi: 10.1136/jmg.38.2.113.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / pathology
  • Base Sequence
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Breakage
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Growth Disorders / pathology
  • Humans
  • Microcephaly / pathology
  • Mutation*
  • Nuclear Proteins / genetics*
  • Polydactyly / pathology
  • Sequence Deletion
  • Syndrome
  • Translocation, Genetic

Substances

  • Nuclear Proteins
  • DNA