In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe

Acta Derm Venereol. 2017 Jan 4;97(1):105-107. doi: 10.2340/00015555-2451.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Epidermolysis Bullosa Simplex / genetics*
  • Exons
  • Female
  • Gene Deletion
  • Humans
  • Introns
  • Keratin-5 / genetics*
  • Middle Aged
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction

Substances

  • Keratin-5