Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis

Hum Mol Genet. 1993 Sep;2(9):1491-2. doi: 10.1093/hmg/2.9.1491.
No abstract available

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • Exons
  • Female
  • Genes, Neurofibromatosis 1*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic
  • Sequence Deletion

Substances

  • DNA