Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain

J Med Genet. 2004 Apr;41(4):e48. doi: 10.1136/jmg.2003.011890.
No abstract available

Publication types

  • Comparative Study
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis / methods*
  • Exons
  • GTPase-Activating Proteins / chemistry
  • Genes, Neurofibromatosis 1*
  • Humans
  • Mutation
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromin 1 / chemistry
  • Polymorphism, Genetic
  • Protein Structure, Tertiary

Substances

  • GTPase-Activating Proteins
  • Neurofibromin 1