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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	883-885
Journal	Experimental Dermatology
Volume	24
Issue number	11
DOIs	https://doi.org/10.1111/exd.12786
Publication status	Published - Nov 2015

Keywords

Epidermolytic ichthyosis
KRT1
keratin
palmoplantar keratoderma

Access to Document

10.1111/exd.12786

Cite this

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",

keywords = "Epidermolytic ichthyosis, KRT1, keratin, palmoplantar keratoderma",

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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Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. / Nellen, Ruud G. L.; Nagtzaam, Ivo F.; Hoogeboom, A. Jeannette M. et al.
In: Experimental Dermatology, Vol. 24, No. 11, 11.2015, p. 883-885.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

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AU - Nellen, Ruud G. L.

AU - Nagtzaam, Ivo F.

AU - Hoogeboom, A. Jeannette M.

AU - Bladergroen, Reno S.

AU - Jonkman, Marcel F.

AU - Steijlen, Peter M.

AU - van Steensel, Maurice A. M.

AU - van Geel, Michel

PY - 2015/11

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KW - Epidermolytic ichthyosis

KW - KRT1

KW - keratin

KW - palmoplantar keratoderma

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SN - 0906-6705

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EP - 885

JO - Experimental Dermatology

JF - Experimental Dermatology

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