Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression

J Invest Dermatol. 2012 Mar;132(3 Pt 1):742-4. doi: 10.1038/jid.2011.379. Epub 2011 Nov 24.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Carrier Proteins / genetics*
  • Codon, Nonsense
  • Cytoskeletal Proteins / genetics*
  • Dystonin
  • Epidermolysis Bullosa Simplex / genetics*
  • Female
  • Genes, Recessive*
  • Humans
  • Infant
  • Male
  • Nerve Tissue Proteins / genetics*
  • Skin / ultrastructure

Substances

  • Carrier Proteins
  • Codon, Nonsense
  • Cytoskeletal Proteins
  • DST protein, human
  • Dystonin
  • Nerve Tissue Proteins