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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Bibliografiske detaljer
Udgivet i:Mol Ther
Main Authors: Cogan, Jon, Weinstein, Jacqueline, Wang, Xinyi, Hou, Yingping, Martin, Sabrina, South, Andrew P, Woodley, David T, Chen, Mei
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2014
Fag:
Original Article
Online adgang: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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