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Article

Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

Experimental dermatology - 1 Feb 2000

Arin M J, Longley M A, Epstein E H, Rothnagel J A, Roop D R

Abstract excerpt

Epidermolytic hyperkeratosis (EHK) is a hereditary skin disorder typified by blistering due to cytolysis. One in 100,000 individuals is affected by this autosomal-dominant disease. The onset of the disease phenotype is typically at birth. Histological and ultrastructural examination of the epidermis shows a thickened stratum corneum and tonofilament clumping around the nucleus of suprabasal keratinocytes. Linkage...

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Source

Identifiers

PMID: 10688370
DOI: 10.1034/j.1600-0625.2000.009001016.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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