Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria
✍ Scribed by 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
- Book ID
- 122127641
- Publisher
- American Society of Human Genetics
- Year
- 2014
- Tongue
- English
- Weight
- 411 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0002-9297
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We investigated the molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, and defined a novel point mutation in the ferrochelatase gene. cDNAs were synthesized using Epstein-Barr-virus-transformed lymphoblastoid cells fr