PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

Nat Genet. 1997 Jan;15(1):13-4. doi: 10.1038/ng0197-13.
No abstract available

Publication types

  • Letter

MeSH terms

  • 3T3 Cells
  • Animals
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Humans
  • Male
  • Methionine
  • Mice
  • Myelin Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single-Stranded Conformational
  • Sweden
  • Threonine

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, mouse
  • Threonine
  • Methionine