The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

J Invest Dermatol. 2016 Mar;136(3):719-721. doi: 10.1016/j.jid.2015.11.024. Epub 2015 Dec 30.
No abstract available

Publication types

  • Letter

MeSH terms

  • Cause of Death
  • Child, Preschool
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / mortality
  • Epidermolysis Bullosa Simplex / physiopathology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Keratin-14 / genetics*
  • Keratin-5 / genetics*
  • Male
  • Mutation, Missense / genetics*
  • Prognosis
  • Sampling Studies
  • Survival Rate

Substances

  • KRT14 protein, human
  • KRT5 protein, human
  • Keratin-14
  • Keratin-5