Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa

Br J Dermatol. 2009 Aug;161(2):464-7. doi: 10.1111/j.1365-2133.2009.09114.x. Epub 2009 Mar 26.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Gene Expression
  • Humans
  • Male
  • Mutation
  • Phenotype
  • RNA Splice Sites / genetics*
  • Severity of Illness Index

Substances

  • Collagen Type VII
  • RNA Splice Sites