Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal

Br J Dermatol. 2013 Jun;168(6):1364-7. doi: 10.1111/bjd.12179.
No abstract available

Publication types

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

MeSH terms

  • Black People
  • DNA Mutational Analysis
  • Founder Effect
  • Genes, Recessive
  • Genotype
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Italy
  • Mutation / genetics*
  • Portugal
  • Transglutaminases / genetics*
  • White People

Substances

  • Transglutaminases
  • transglutaminase 1