A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease

Hum Mutat. 1998:Suppl 1:S8-9. doi: 10.1002/humu.1380110104.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Amino Acid Substitution
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Connexins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Gap Junction beta-1 Protein
  • Genetic Linkage
  • Humans
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • Protein Structure, Tertiary
  • X Chromosome*

Substances

  • Connexins
  • Membrane Proteins
  • DNA