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Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population

✍ Scribed by M. Castori; G. Floriddia; N. De Luca; M. Pascucci; P. Ghirri; V. Boccaletti; M. El Hachem; G. Zambruno; D. Castiglia


Book ID
108669699
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
396 KB
Volume
0
Category
Article
ISSN
0007-0963

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A recurrent laminin 5 mutation in Britis
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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