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Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

✍ Scribed by Leena Pulkkinen; Donald R. Gerecke; Angela M. Christiano; D.Wolfe Wagman; Robert E. Burgeson; Jouni Uitto


Book ID
116154054
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
833 KB
Volume
25
Category
Article
ISSN
0888-7543

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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