Digenic inheritance in epidermolysis bullosa simplex

J Invest Dermatol. 2012 Dec;132(12):2852-4. doi: 10.1038/jid.2012.229. Epub 2012 Jul 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Sequence
  • Child, Preschool
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / pathology*
  • Family Health
  • Humans
  • Jews / genetics*
  • Keratin-14 / genetics*
  • Keratin-5 / genetics*
  • Male
  • Molecular Sequence Data
  • Pedigree

Substances

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