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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Dettagli Bibliografici
Pubblicato in:Mol Ther
Autori principali: Cogan, Jon, Weinstein, Jacqueline, Wang, Xinyi, Hou, Yingping, Martin, Sabrina, South, Andrew P, Woodley, David T, Chen, Mei
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Original Article
Accesso online: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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