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Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

✍ Scribed by Rocío Sánchez-Alcudia; Belén Pérez; Magdalena Ugarte; Lourdes R. Desviat

Book ID
112099713
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
345 KB
Volume
33
Category
Article
ISSN
1059-7794

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Thirty-five percent of patients with Rett syndrome carry nonsense mutations in the __MECP2__ gene. We have recently shown in transfected HeLa cells that readthrough of nonsense mutations in the __MECP2__ gene can be achieved by treatment with gentamicin and geneticin. This study was performed to tes