Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone. Both recessive and dominant forms are known; the latter account for about 40%...

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Autors principals: Nyström, Alexander, Buttgereit, Jens, Bader, Michael, Shmidt, Tatiana, Özcelik, Cemil, Hausser, Ingrid, Bruckner-Tuderman, Leena, Kern, Johannes S.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662756/
https://ncbi.nlm.nih.gov/pubmed/23717576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0064243
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