A new disease-causing mutation in the GAP-related domain of the NF1 gene

Hum Mol Genet. 1993 Jul;2(7):1057-9. doi: 10.1093/hmg/2.7.1057.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Binding Sites / genetics
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons
  • Female
  • Frameshift Mutation*
  • GTPase-Activating Proteins
  • Genes, Neurofibromatosis 1*
  • Humans
  • Male
  • Molecular Sequence Data
  • Neurofibromatosis 1 / genetics*
  • Proteins / genetics*

Substances

  • GTPase-Activating Proteins
  • Proteins
  • DNA