A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene

Br J Dermatol. 2004 Feb;150(2):390-2. doi: 10.1111/j.1365-2133.2003.05803.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Japan
  • Male
  • Mutation, Missense / genetics*
  • Polymerase Chain Reaction / methods
  • Transglutaminases / genetics*

Substances

  • Transglutaminases
  • transglutaminase 1