Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype

J Invest Dermatol. 1999 Sep;113(3):419-21. doi: 10.1046/j.1523-1747.1999.00713.x.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Collagen / genetics*
  • Cytoplasm / metabolism*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / metabolism
  • Female
  • Heterozygote*
  • Humans
  • Male
  • Point Mutation*
  • Procollagen / metabolism*
  • Skin / metabolism*

Substances

  • Procollagen
  • Collagen