Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)

Hum Mutat. 1998:Suppl 1:S242-7. doi: 10.1002/humu.1380110178.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Gap Junction beta-1 Protein
  • Heteroduplex Analysis
  • Humans
  • Male
  • Mutation, Missense
  • Myelin P0 Protein / genetics
  • Myelin Proteins / genetics
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • Connexins
  • Myelin P0 Protein
  • Myelin Proteins
  • PMP22 protein, human
  • DNA