A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa

J Dermatol Sci. 2007 Jun;46(3):211-3. doi: 10.1016/j.jdermsci.2007.01.004. Epub 2007 Mar 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Asian People / ethnology
  • Asian People / genetics*
  • Collagen Type VII / genetics*
  • Collagen Type VII / metabolism
  • DNA / chemistry
  • Epidermolysis Bullosa Dystrophica / diagnosis
  • Epidermolysis Bullosa Dystrophica / ethnology
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Female
  • Glycine / analysis
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Pedigree*
  • Skin / metabolism
  • Skin / pathology

Substances

  • Collagen Type VII
  • DNA
  • Glycine