Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B

Am J Med Genet. 1997 Aug 8;71(2):246-8. doi: 10.1002/(sici)1096-8628(19970808)71:2<246::aid-ajmg28>3.0.co;2-d.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • DNA, Complementary
  • Exons
  • Female
  • Genes, Dominant
  • Humans
  • Myelin P0 Protein / genetics*
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA

Substances

  • DNA, Complementary
  • Myelin P0 Protein