Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis

Exp Dermatol. 2016 Aug;25(8):657-9. doi: 10.1111/exd.13000. Epub 2016 Jun 15.
No abstract available

Keywords: autosomal recessive congenital ichthyosis; functional study; missense mutation; transglutaminase 1.

Publication types

  • Letter

MeSH terms

  • Animals
  • COS Cells
  • Chlorocebus aethiops
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Mutation, Missense
  • Transglutaminases / genetics*

Substances

  • Transglutaminases
  • transglutaminase 1