Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Abstract excerpt

INTRODUCTION: Epidermolysis bullosa (EB), a group of autosomal heritable blistering diseases, is characterised by extensive phenotypic variability with considerable morbidity and mortality. EB is classified into distinct subtypes depending on the location of blistering within the cutaneous dermoepidermal basement membrane zone. Ten genes are known to harbour mutations in the major types of EB, and the level of...

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