The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1

J Invest Dermatol. 2007 Feb;127(2):490-3. doi: 10.1038/sj.jid.5700550. Epub 2006 Sep 14.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Arginine
  • Child
  • Female
  • Homozygote*
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Ichthyosis, Lamellar / pathology*
  • Leucine
  • Male
  • Mutation, Missense*
  • South Africa
  • Transglutaminases / genetics*

Substances

  • Arginine
  • Transglutaminases
  • transglutaminase 1
  • Leucine