Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation

J Dermatol Sci. 2007 Dec;48(3):229-32. doi: 10.1016/j.jdermsci.2007.07.014. Epub 2007 Sep 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Epidermolysis Bullosa Simplex / genetics*
  • Female
  • Genotype
  • Humans
  • Infant
  • Keratin-5 / genetics*
  • Keratin-5 / metabolism
  • Male
  • Phenotype*
  • Skin / metabolism
  • Skin / pathology

Substances

  • Keratin-5