First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

Clin Exp Dermatol. 2018 Aug;43(6):719-722. doi: 10.1111/ced.13400. Epub 2018 Feb 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Blister / pathology
  • Child
  • Collagen Type VII / genetics*
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Dystrophica / blood
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Mutation
  • Peru / epidemiology
  • Polymorphism, Single Nucleotide / genetics
  • Skin Diseases, Vesiculobullous / genetics*
  • Skin Diseases, Vesiculobullous / pathology

Substances

  • COL7A1 protein, human
  • Collagen Type VII