Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

Br J Dermatol. 2013 Jan;168(1):226-9. doi: 10.1111/j.1365-2133.2012.11128.x. Epub 2012 Sep 27.
No abstract available

Publication types

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

MeSH terms

  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / epidemiology
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Founder Effect
  • Haplotypes
  • Humans
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Spain / epidemiology

Substances

  • COL7A1 protein, human
  • Collagen Type VII