Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

Hum Mutat. 1998:Suppl 1:S217-9. doi: 10.1002/humu.1380110170.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myelin P0 Protein / genetics*
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion

Substances

  • Myelin P0 Protein
  • DNA

Grants and funding