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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

✍ Scribed by Aoi Nakano; Sheau-Chiou Chao; Leena Pulkkinen; Dedee Murrell; Leena Bruckner-Tuderman; Ellen Pfendner; Jouni Uitto


Book ID
106133592
Publisher
Springer
Year
2001
Tongue
English
Weight
299 KB
Volume
110
Category
Article
ISSN
0340-6717

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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