The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis

Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28.
No abstract available

Publication types

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

MeSH terms

  • Connexins / genetics*
  • Erythrokeratodermia Variabilis / genetics*
  • Female
  • Heterozygote
  • Humans
  • Mutation, Missense / genetics*
  • Pedigree

Substances

  • Connexins
  • GJB3 protein, human