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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Detalhes bibliográficos
Publicado no:Mol Ther
Main Authors: Cogan, Jon, Weinstein, Jacqueline, Wang, Xinyi, Hou, Yingping, Martin, Sabrina, South, Andrew P, Woodley, David T, Chen, Mei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Original Article
Acesso em linha: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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