Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene

Hum Mol Genet. 1994 Jul;3(7):1179-81. doi: 10.1093/hmg/3.7.1179.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Female
  • Genes, Neurofibromatosis 1*
  • Humans
  • Introns / genetics*
  • Male
  • Molecular Sequence Data
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • RNA Splicing*
  • RNA, Messenger / genetics*

Substances

  • DNA, Complementary
  • Neurofibromin 1
  • Proteins
  • RNA, Messenger

Associated data

  • GENBANK/L03723