Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

J Med Genet. 2003 Jun;40(6):e82. doi: 10.1136/jmg.40.6.e82.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics
  • Amino Acid Substitution / genetics
  • Cafe-au-Lait Spots / genetics
  • Child
  • Child, Preschool
  • DNA / genetics
  • Genes, Neurofibromatosis 1*
  • Genetic Variation / genetics
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Learning Disabilities / genetics
  • Mutation / genetics*
  • Neurofibroma / genetics
  • Neurofibroma, Plexiform / genetics
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / chemistry
  • Neurofibromin 1 / genetics
  • Optic Nerve Glioma / genetics
  • Phenotype
  • RNA Processing, Post-Transcriptional / genetics
  • Recurrence
  • Scoliosis / genetics
  • Skin Neoplasms / genetics

Substances

  • Neurofibromin 1
  • DNA