Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

Hum Mutat. 1996;7(2):167-71. doi: 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Canada
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / metabolism
  • Connexins / chemistry
  • Connexins / genetics*
  • DNA Primers / chemistry
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • X Chromosome

Substances

  • Connexins
  • DNA Primers
  • connexin 32

Associated data

  • GENBANK/X04325