A novel in situ method for the detection of deficient transglutaminase activity in the skin.

doi:10.1007/s004030050362

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Article

A novel in situ method for the detection of deficient transglutaminase activity in the skin.

Archives of dermatological research - 1 Nov 1998

Raghunath M, Hennies H C, Velten F, Wiebe V, Steinert P M, Reis A, Traupe H

Abstract excerpt

Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzym...

Topics

Chromosome Mapping
Clinical Enzyme Tests
Humans
Ichthyosis
Immunohistochemistry
In Situ Hybridization
Mutation
Skin
Transglutaminases

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