A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy

Hum Mutat. 1996;8(4):375-6. doi: 10.1002/(SICI)1098-1004(1996)8:4<375::AID-HUMU14>3.0.CO;2-#.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Codon
  • Connexins / genetics*
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Gap Junction beta-1 Protein
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Restriction Mapping
  • X Chromosome*

Substances

  • Codon
  • Connexins
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases