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A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

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


Book ID
115612473
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
275 KB
Volume
24
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