LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: Consequences at the mRNA and protein levels

E210K mutation in the gene encoding the

E210K mutation in the gene encoding the β3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

✍ Mellerio; Eady; Atherton; Lake; Mcgrath 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 773 KB

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 evid