Human keratin diseases: hereditary fragility of specific epithelial tissues.

Abstract excerpt

Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures. Epidermolysis bullosa simplex (EBS) was the first mechanobullous disease for which the underlying genetic lesion was found, with mutations in both the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Skin Diseases
• Share to Epithelium
• Share to Genes, Recessive