Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum

Sanja Kezic, Patrick M. J. H. Kemperman, Ellen S. Koster, Cindy M. De Jongh, Hok Bing Thio, Linda E. Campbell, Alan D. Irvine, Irwin W. H. McLean, Gerwin J. Puppels, Peter J. Caspers

Research output: Contribution to journalLetterAcademicpeer-review

Original languageEnglish
Pages (from-to)2117-2119
Number of pages3
JournalJournal of Investigative Dermatology
Issue number8
Publication statusPublished - 1 Aug 2008


  • filaggrin
  • atopic dermatitis
  • DNA polymorphism
  • filaggrin gene
  • gene
  • gene expression
  • gene frequency
  • gene mutation
  • genetic predisposition
  • heterozygosity
  • heterozygote
  • homozygosity
  • humidity
  • ichthyosis vulgaris
  • letter
  • priority journal
  • SCCE gene
  • sensitivity and specificity
  • skin water loss
  • SPINK5 gene
  • stratum corneum
  • wild type

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