Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?

J Dermatol. 2016 Jul;43(7):830-1. doi: 10.1111/1346-8138.13277. Epub 2016 Jan 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Connexins / genetics*
  • DNA Mutational Analysis
  • Erythrokeratodermia Variabilis / genetics*
  • Female
  • Glycine
  • Humans
  • Middle Aged

Substances

  • Connexins
  • connexin 30.3
  • Glycine