A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family

J Dermatol Sci. 2008 Feb;49(2):166-9. doi: 10.1016/j.jdermsci.2007.08.007. Epub 2007 Sep 27.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Asian People / genetics*
  • Aspartic Acid
  • China
  • Collagen Type VII / genetics*
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Female
  • Genetic Predisposition to Disease
  • Glycine
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Risk Factors
  • Severity of Illness Index
  • Sex Factors
  • Skin / pathology*

Substances

  • Collagen Type VII
  • Aspartic Acid
  • Glycine