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

RGL Nellen; IF Nagtzaam; Jeannette Hoogeboom; RS Bladergroen; MF Jonkman; PM Steijlen; MAM van Steensel; M 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

RGL Nellen, IF Nagtzaam, Jeannette Hoogeboom, RS Bladergroen, MF Jonkman, PM Steijlen, MAM van Steensel, M van Geel

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

6 Citations (Scopus)

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

Research programs

EMC MGC-02-96-01

Access to Document

10.1111/exd.12786

http://hdl.handle.net/1765/90336

Cite this

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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 = "RGL Nellen and IF Nagtzaam and Jeannette Hoogeboom and RS Bladergroen and MF Jonkman and PM Steijlen and {van Steensel}, MAM and {van Geel}, M",

year = "2015",

doi = "10.1111/exd.12786",

language = "Undefined/Unknown",

volume = "24",

pages = "883--885",

journal = "Experimental Dermatology",

issn = "0906-6705",

publisher = "John Wiley & Sons Inc.",

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AU - Nellen, RGL

AU - Nagtzaam, IF

AU - Hoogeboom, Jeannette

AU - Bladergroen, RS

AU - Jonkman, MF

AU - Steijlen, PM

AU - van Steensel, MAM

AU - van Geel, M

PY - 2015

Y1 - 2015

U2 - 10.1111/exd.12786

DO - 10.1111/exd.12786

M3 - Article

C2 - 26120802

SN - 0906-6705

VL - 24

SP - 883

EP - 885

JO - Experimental Dermatology

JF - Experimental Dermatology

IS - 11

ER -