Junctional epidermolysis bullosa with LAMB3 splice-site mutations

Acta Derm Venereol. 2015 Sep;95(7):849-51. doi: 10.2340/00015555-2073.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Biopsy
  • Cell Adhesion Molecules / genetics*
  • Cell Adhesion Molecules / metabolism
  • DNA Mutational Analysis
  • Epidermolysis Bullosa, Junctional / diagnosis
  • Epidermolysis Bullosa, Junctional / genetics*
  • Epidermolysis Bullosa, Junctional / metabolism
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Kalinin
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Phenotype
  • RNA Splice Sites*
  • Skin / metabolism
  • Skin / ultrastructure

Substances

  • Cell Adhesion Molecules
  • Genetic Markers
  • RNA Splice Sites