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Article

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.

Nature genetics - 1 Jul 1992

Compton J G, DiGiovanna J J, Santucci S K, Kearns K S, Amos C I, Abangan D L, Korge B P, McBride O W, Steinert P M, Bale S J

Abstract excerpt

We investigated the molecular genetics of epidermolytic hyperkeratosis (EHK), a dominant disorder characterized by epidermal blistering, hyperkeratosis, vacuolar degeneration and clumping of keratin filaments. Based on this pathology, we have excluded by linkage analysis several candidate genes for the disease; in contrast, complete linkage was obtained with the type II keratin, K1, on 12q11-q13. Linkage in this...

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PMID: 1284546
DOI: 10.1038/ng0792-301

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

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