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

doi:10.1111/exd.12786

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 journal › Article › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	883-885
Number of pages	3
Journal	Experimental Dermatology
Volume	24
Issue number	11
Early online date	21 Aug 2015
DOIs	https://doi.org/10.1111/exd.12786
Publication status	Published - Nov 2015

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10.1111/exd.12786

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Nellen, R. G. L., Nagtzaam, I. F., Hoogeboom, A. J. M., Bladergroen, R. S., Jonkman, M. F., Steijlen, P. M., van Steensel, M. A. M., & van Geel, M. (2015). Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. Experimental Dermatology, 24(11), 883-885. https://doi.org/10.1111/exd.12786

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

author = "Nellen, {Ruud G. L.} and Nagtzaam, {Ivo F.} and Hoogeboom, {A. Jeannette M.} and Bladergroen, {Reno S.} and Jonkman, {Marcel F.} and Steijlen, {Peter M.} and {van Steensel}, {Maurice A. M.} and {van Geel}, Michel",

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AU - Bladergroen, Reno S.

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AU - van Geel, Michel

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

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