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 (Lead / Corresponding author)

    Research output: Contribution to journalArticlepeer-review

    1 Citation (Scopus)
    Original languageEnglish
    Pages (from-to)883-885
    Number of pages3
    JournalExperimental Dermatology
    Volume24
    Issue number11
    Early online date21 Aug 2015
    DOIs
    Publication statusPublished - Nov 2015

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