Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families

Hum Mutat. 1996;8(3):270-2. doi: 10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.0.CO;2-#.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • DNA Primers
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Gap Junction beta-1 Protein
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • Connexins
  • DNA Primers
  • CTGCAG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific