E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.

Abstract excerpt

Pathogenetic mutations in the genes encoding the hemidesmosome-anchoring filament complex proteins, laminin-5 and the 180 kDa bullous pemphigoid antigen, have been identified in patients with the inherited mechanobullous disease, junctional epidermolysis bullosa (EB). Furthermore, there is some evidence to suggest that precise definition of the nature of mutations in these genes may correlate to specific...

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