Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa

J Invest Dermatol. 2000 Jan;114(1):204-5. doi: 10.1046/j.1523-1747.2000.00848.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution / genetics*
  • Base Sequence / genetics
  • Child
  • Codon / genetics
  • Collagen / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Genes, Recessive*
  • Glycine / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*

Substances

  • Codon
  • Collagen
  • Glycine