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Article

Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.

Clinical and experimental dermatology - 1 Jan 2005

Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E

Abstract excerpt

Mutations in the keratin 1 (KRT1) gene underlie epidermolytic hyperkeratosis (EHK). This autosomal dominant disorder is characterized by phenotypic heterogeneity. In the present study, we assessed a 33-year-old individual presenting with severe palmoplantar keratoderma and histopathological findings suggestive of EHK. We analysed genomic DNA extracted from the patient's blood lymphocytes for pathogenic mutations...

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Topics

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Share to DNA Mutational Analysis
Share to Gene Deletion
Share to Hyperkeratosis, Epidermolytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Keratoderma, Palmoplantar

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Share to RNA Splicing

Source

Identifiers

PMID: 15663507
DOI: 10.1111/j.1365-2230.2004.01661.x

Genes

KRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.PMID 15663507Read ↗

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