Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa

J Invest Dermatol. 2022 Apr;142(4):1227-1230.e4. doi: 10.1016/j.jid.2021.09.018. Epub 2021 Oct 18.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantigens / genetics
  • Codon, Nonsense / genetics
  • Collagen Type XVII
  • Epidermolysis Bullosa* / genetics
  • Epidermolysis Bullosa, Junctional* / genetics
  • Humans
  • Mutation
  • Non-Fibrillar Collagens / genetics

Substances

  • Autoantigens
  • Codon, Nonsense
  • Non-Fibrillar Collagens