The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn

J Dermatol Sci. 2009 Oct;56(1):66-8. doi: 10.1016/j.jdermsci.2009.06.011. Epub 2009 Jul 29.
No abstract available

Publication types

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

MeSH terms

  • Collagen Type VII / genetics*
  • Collagen Type VII / metabolism
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Microscopy, Electron, Transmission
  • Mutation / genetics
  • Skin / pathology
  • Skin Diseases, Vesiculobullous / genetics*
  • Skin Diseases, Vesiculobullous / pathology

Substances

  • Collagen Type VII