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
Volume128
Issue number8
DOIs
Publication statusPublished - 1 Aug 2008

Keywords

  • 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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