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Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa

✍ Scribed by A. Pérez; N. Almaani; C. M. Stefanato; B. Bhogal; R. W. Groves; J. E. Mellerio; J. A. McGrath


Book ID
108696707
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
345 KB
Volume
35
Category
Article
ISSN
0307-6938

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The three genes (LAMA3, LAB3 and LAMC2) that encode the anchoring filament protein, laminin 5, may all harbour pathogenetic mutations in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa (JEB). Recently, one particular mutation, R635X in the LAMB3 gene, has been foun