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

doi:10.1038/ng0792-301

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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...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 12
DNA
DNA, Satellite
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Hyperkeratosis, Epidermolytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Keratins

Lod Score

Male

Molecular Sequence Data

Multigene Family

Oligodeoxyribonucleotides

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1284546
DOI: 10.1038/ng0792-301

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1284546-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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