Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype

Childs Nerv Syst. 2012 Jun;28(6):943-6. doi: 10.1007/s00381-011-1648-x. Epub 2011 Dec 9.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Genes, Neurofibromatosis 1*
  • Genotype
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics*
  • Pedigree
  • Phenotype

Substances

  • Neurofibromin 1
  • DNA