Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria

In 90% of people with erythropoietic protoporphyria (EPP), the disease results from the inheritance of a common hypomorphic FECH allele, encoding ferrochelatase, in trans to a private deleterious FECH mutation. The activity of the resulting FECH enzyme falls below the critical threshold of 35%, lead...

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Main Authors: Oustric, Vincent, Manceau, Hana, Ducamp, Sarah, Soaid, Rima, Karim, Zoubida, Schmitt, Caroline, Mirmiran, Arienne, Peoc’h, Katell, Grandchamp, Bernard, Beaumont, Carole, Lyoumi, Said, Moreau-Gaudry, François, Guyonnet-Dupérat, Véronique, de Verneuil, Hubert, Marie, Joëlle, Puy, Herve, Deybach, Jean-Charles, Gouya, Laurent
格式: Artigo
語言:Inglês
出版: Elsevier 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3980518/
https://ncbi.nlm.nih.gov/pubmed/24680888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.02.010
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