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

• Päätekijät: Ángeles Mencía (Tekijä), Cristina Chamorro (Tekijä), Jose Bonafont (Tekijä), Blanca Duarte (Tekijä), Almudena Holguin (Tekijä), Nuria Illera (Tekijä), Sara G. Llames (Tekijä), Maria José Escámez (Tekijä), Ingrid Hausser (Tekijä), Marcela Del Río (Tekijä), Fernando Larcher (Tekijä), Rodolfo Murillas (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Elsevier, 2018-06-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

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-...