Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa

Proc Assoc Am Physicians. 1995 Jul;107(2):245-52.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Codon, Terminator*
  • Collagen / genetics*
  • Epidermolysis Bullosa / genetics*
  • Epidermolysis Bullosa / metabolism
  • Genes, Recessive
  • Haplotypes
  • Humans
  • Mutation*

Substances

  • Codon, Terminator
  • Collagen