Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa

J Invest Dermatol. 1999 Jun;112(6):991-3. doi: 10.1046/j.1523-1747.1999.00601.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Codon / genetics
  • Collagen / genetics*
  • Epidermolysis Bullosa Dystrophica / epidemiology
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Genetic Variation
  • Humans
  • Japan / epidemiology
  • Male
  • Mutation
  • Point Mutation
  • Severity of Illness Index

Substances

  • Codon
  • Collagen