Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

Hum Mutat. 1998:Suppl 1:S47-9. doi: 10.1002/humu.1380110116.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Arginine / genetics
  • Cell Line, Transformed
  • Codon
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Humans
  • Mutation
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Sequence Deletion

Substances

  • Codon
  • Neurofibromin 1
  • Proteins
  • DNA
  • Arginine