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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the most common variant for the childhood/adul...

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Detalles Bibliográficos
Autores principales:	van der Wal, Erik, Bergsma, Atze J., van Gestel, Tom J.M., in ‘t Groen, Stijn L.M., Zaehres, Holm, Araúzo-Bravo, Marcos J., Schöler, Hans R., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society of Gene & Cell Therapy 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415960/ https://www.ncbi.nlm.nih.gov/pubmed/28624186 http://dx.doi.org/10.1016/j.omtn.2017.03.002

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