Independent NF1 mutations in two large families with spinal neurofibromatosis

J Med Genet. 2003 Feb;40(2):122-6. doi: 10.1136/jmg.40.2.122.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Base Sequence
  • Blotting, Western
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • Family Health
  • Female
  • Humans
  • Male
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / metabolism
  • Neurofibromatosis 1 / pathology
  • Neurofibromin 1 / genetics*
  • Pedigree
  • Spine / pathology*

Substances

  • DNA, Complementary
  • DNA, Neoplasm
  • Neurofibromin 1