Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families

J Dermatol Sci. 2013 Oct;72(1):72-4. doi: 10.1016/j.jdermsci.2013.05.002. Epub 2013 May 23.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Case-Control Studies
  • Cell Adhesion Molecules / genetics*
  • Child, Preschool
  • Collagen Type VII / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Epidermolysis Bullosa, Junctional / genetics*
  • Epidermolysis Bullosa, Junctional / pathology
  • Female
  • Homozygote
  • Humans
  • Kalinin
  • Lebanon
  • Male
  • Pedigree
  • Syria

Substances

  • COL7A1 protein, human
  • Cell Adhesion Molecules
  • Collagen Type VII

Supplementary concepts

  • Epidermolysis Bullosa, Junctional, Non-Herlitz Type