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Article

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

Experimental dermatology - 1 Nov 2015

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

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Share to Hyperkeratosis, Epidermolytic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26120802
DOI: 10.1111/exd.12786

Genes

KRT1

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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.PMID 26120802Read ↗

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A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Semantic proximity Read ↗

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.Semantic proximity Read ↗

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