Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells

Recessive dystrophic epidermolysis bullosa is a severe skin fragility disease caused by loss of functional type VII collagen at the dermal-epidermal junction. A frameshift mutation in exon 80 of COL7A1 gene, c.6527insC, is highly prevalent in the Spanish patient population. We have implemented gene-...

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Publicado en:Mol Ther Nucleic Acids
Main Authors: Mencía, Ángeles, Chamorro, Cristina, Bonafont, Jose, Duarte, Blanca, Holguin, Almudena, Illera, Nuria, Llames, Sara G., Escámez, Maria José, Hausser, Ingrid, Del Río, Marcela, Larcher, Fernando, Murillas, Rodolfo
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Gene & Cell Therapy 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852297/
https://ncbi.nlm.nih.gov/pubmed/29858091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2018.01.009
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