Aminoglycosides Restore Full-length Type VII Collagen by Overcoming Premature Termination Codons: Therapeutic Implications for Dystrophic Epidermolysis Bullosa

Patients with recessive dystrophic epidermolysis bullosa (RDEB) have severe, incurable skin fragility, blistering, and multiple skin wounds due to mutations in the gene encoding type VII collagen (C7), the major component of anchoring fibrils mediating epidermal-dermal adherence. Nearly 10–25% of RD...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Ther
Auteurs principaux: Cogan, Jon, Weinstein, Jacqueline, Wang, Xinyi, Hou, Yingping, Martin, Sabrina, South, Andrew P, Woodley, David T, Chen, Mei
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2014
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4428404/
https://ncbi.nlm.nih.gov/pubmed/25155989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2014.140
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