Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

Glycogen storage disease type II is a lysosomal storage disorder due to mutations of the GAA gene, which causes lysosomal alpha-glucosidase deficiency. Clinically, glycogen storage disease type II has been classified in infantile and late-onset forms. Most late-onset patients share the leaky splicin...

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Detalles Bibliográficos
Autores principales: Dardis, Andrea, Zanin, Irene, Zampieri, Stefania, Stuani, Cristiana, Pianta, Annalisa, Romanello, Milena, Baralle, Francisco E., Bembi, Bruno, Buratti, Emanuele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
RNA
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902950/
https://www.ncbi.nlm.nih.gov/pubmed/24150945
http://dx.doi.org/10.1093/nar/gkt987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902950/
https://www.ncbi.nlm.nih.gov/pubmed/24150945
http://dx.doi.org/10.1093/nar/gkt987

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