Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients

J Invest Dermatol. 2014 Jan;134(1):273-276. doi: 10.1038/jid.2013.277. Epub 2013 Jun 17.
No abstract available

Publication types

  • Letter

MeSH terms

  • Epidermolysis Bullosa Simplex / genetics*
  • Genes, Dominant
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation, Missense*
  • Plectin / genetics*

Substances

  • PLEC protein, human
  • Plectin