Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

J Dermatol Sci. 2012 Feb;65(2):149-52. doi: 10.1016/j.jdermsci.2011.11.010. Epub 2011 Dec 13.
No abstract available

Publication types

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

MeSH terms

  • Case-Control Studies
  • Chile
  • Collagen Type VII / genetics*
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Dystrophica / epidemiology
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Mutation*
  • Phenotype
  • Skin / pathology

Substances

  • COL7A1 protein, human
  • Collagen Type VII