Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

Br J Dermatol. 2013 Apr;168(4):904-6. doi: 10.1111/bjd.12063. Epub 2013 Jan 31.
No abstract available

Publication types

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

MeSH terms

  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Promoter Regions, Genetic / genetics*

Substances

  • COL7A1 protein, human
  • Collagen Type VII