X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32

Hum Mol Genet. 1994 Sep;3(9):1699-700. doi: 10.1093/hmg/3.9.1699.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • DNA / genetics
  • Female
  • Gap Junction beta-1 Protein
  • Genes, Dominant
  • Genetic Linkage*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation
  • X Chromosome*

Substances

  • Connexins
  • DNA