Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1

Hum Genet. 2007 Dec;122(5):557.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Codon / genetics
  • Connexins / genetics*
  • Gap Junction beta-1 Protein
  • Humans
  • Mutation, Missense*

Substances

  • Codon
  • Connexins