The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation

Br J Dermatol. 2004 Mar;150(3):609-11. doi: 10.1046/j.1365-2133.2004.05820.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Epidermolysis Bullosa Simplex / genetics*
  • Family Health
  • Humans
  • Infant
  • Japan
  • Keratin-5
  • Keratins / genetics*
  • Male
  • Mutation
  • Pigmentation Disorders / genetics*

Substances

  • KRT5 protein, human
  • Keratin-5
  • Keratins