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

C Mattocks, D Baralle, P Tarpey, Charles ffrench-Constant, M Bobrow, J Whittaker

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)e48
JournalJournal of Medical Genetics
Volume41
Issue number4
DOIs
Publication statusPublished - 2004

Keywords

  • DNA Mutational Analysis
  • Exons
  • GTPase-Activating Proteins
  • genes, neurofibromatosis 1
  • Humans
  • Mutation
  • Neurofibromatosis 1
  • Neurofibromin 1
  • Polymorphism, Genetic
  • Protein Structure, Tertiary

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