A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family

Clin Exp Dermatol. 2012 Dec;37(8):919-21. doi: 10.1111/j.1365-2230.2012.04406.x. Epub 2012 Jun 8.
No abstract available

Publication types

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

MeSH terms

  • Child
  • China
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Erythrokeratodermia Variabilis / genetics*
  • Humans
  • Male
  • Mutation, Missense*

Substances

  • Connexins
  • GJB3 protein, human