Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

Ruud G. L. Nellen, Ivo F. Nagtzaam, A. Jeannette M. Hoogeboom, Reno S. Bladergroen, Marcel F. Jonkman, Peter M. Steijlen, Maurice A. M. van Steensel, Michel van Geel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Web of Science)
Original languageEnglish
Pages (from-to)883-885
JournalExperimental Dermatology
Volume24
Issue number11
DOIs
Publication statusPublished - Nov 2015

Keywords

  • Epidermolytic ichthyosis
  • KRT1
  • keratin
  • palmoplantar keratoderma

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