Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy

Hum Mutat. 1996;8(1):83-4. doi: 10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.0.CO;2-N.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • Female
  • Gap Junction beta-1 Protein
  • Genes, Dominant
  • Genetic Linkage*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • X Chromosome*

Substances

  • Connexins

Grants and funding