Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa

Int J Dermatol. 2023 Apr;62(4):e204-e205. doi: 10.1111/ijd.16425. Epub 2022 Sep 13.
No abstract available

Publication types

  • Letter

MeSH terms

  • Collagen Type VII / genetics
  • Epidermolysis Bullosa Dystrophica* / genetics
  • Frameshift Mutation*
  • Humans
  • Mutation
  • Pedigree

Substances

  • Collagen Type VII
  • COL7A1 protein, human

Supplementary concepts

  • Epidermolysis bullosa, pretibial