Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

doi:10.1073/pnas.89.15.6906

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Article

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 1992

Fuchs E, Esteves R A, Coulombe P A

Abstract excerpt

Epidermolytic hyperkeratosis (EH; previously called bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disease of unknown etiology, affecting approximately 1 out of 300,000 people. It is typified by hyperkeratotic scaliness, blistering due to cytolysis within suprabasal...

Topics

Animals
Cytoskeleton
Genes, Dominant
Genomic Library
Humans
Ichthyosiform Erythroderma, Congenital
Keratins
Mice
Mice, Transgenic
Mutation
Restriction Mapping
Skin

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