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A ski and adventure camp for young patients with severe forms of epidermolysis bullosa

✍ Scribed by Mary Alice Nading; Julien J. Lahmar; John W. Frew; Nicholas Ghionis; Martin Hanley; Anna Kemble Welch; Dedee F. Murrell


Book ID
116585429
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
301 KB
Volume
61
Category
Article
ISSN
1097-6787

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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