A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

Br J Dermatol. 2006 May;154(5):995-7. doi: 10.1111/j.1365-2133.2006.07148.x.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Skin / ultrastructure

Substances

  • Collagen Type VII