Abstract
This chapter highlights epidermolysis bullosa (EB) as a paradigm of heritable disorders of the basement membrane zone and illustrates the power of molecular diagnostics in blistering skin diseases by reviewing discoveries into the molecular basis of different forms of EB. In this chapter the following topics will be discussed simplex forms of EB, junctional forms of EB, such as Herlitz and non-Herlitz JEB, dystrophic forms of EB, applications of mutation analysis in prenatal diagnosis, and gene therapy approaches.Key WordsEpidermolysis bullosasimplexhemidesmosomaljunctional and dystrophic variantspyloric atresiamuscular dystrophyhemidesmosomesanchoring fibrilscutaneous basement membrane zone
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