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

ABSTRACT:

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 expression of these genes within the cutaneous basement membrane zone and in extracutaneous tissues, as well as the types and combinations of the mutations, explain in general terms the phenotypic variability.

Methods

The DebRA Molecular Diagnostics Laboratory, established in 1996 and supported in part by the patient advocacy organisation DebRA of America, has analysed

SUBMITTER: Varki R 

PROVIDER: S-EPMC2564586 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature