Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

J Dermatol Sci. 2010 Aug;59(2):136-40. doi: 10.1016/j.jdermsci.2010.05.007. Epub 2010 Jun 8.
No abstract available

Publication types

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

MeSH terms

  • Collagen Type VII / genetics*
  • Czech Republic
  • Epidermolysis Bullosa Dystrophica / ethnology*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Exons
  • Humans
  • Mutation, Missense / genetics*
  • Phenotype
  • Recurrence

Substances

  • Collagen Type VII