De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis

J Invest Dermatol. 2008 May;128(5):1323-5. doi: 10.1038/sj.jid.5701164. Epub 2007 Nov 15.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Dermatitis, Atopic / complications*
  • Dermatitis, Atopic / genetics*
  • Family Health
  • Female
  • Filaggrin Proteins
  • Humans
  • Ichthyosis Vulgaris / complications*
  • Ichthyosis Vulgaris / genetics*
  • Intermediate Filament Proteins / genetics*
  • Japan
  • Male
  • Point Mutation

Substances

  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins