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Extracellular matrix distinct signature among dystrophic epidermolysis bullosa ...
Malta, Mariana Jorge Oliveira Cardoso Denis; Osório, H.; Guttmann-Gruber, C.; Kocher, T.; Carvalho, A. F.; Cerqueira, Mariana Teixeira; Marques, A. P.Introduction & objectives: Mutations in the COL7A1 gene, which encodes collagen VII protein, the major component of the anchoring fibrils in the dermal-epidermal junction, cause all forms of dystrophic epidermolysis bullosa (DEB). Different clinical variants have been described with both dominant and recessive inheritance. However, information regarding the consequences of different COL7A1 mutations in the cell...
Date: 2020
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Origin: RepositóriUM - Universidade do Minho