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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-...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society of Gene & Cell Therapy
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852297/ https://www.ncbi.nlm.nih.gov/pubmed/29858091 http://dx.doi.org/10.1016/j.omtn.2018.01.009 |
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