A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1

Chin Med J (Engl). 2017 Mar 5;130(5):629-630. doi: 10.4103/0366-6999.200538.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • Frameshift Mutation*
  • Humans
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics*
  • Pedigree

Substances

  • Neurofibromin 1