Developing Therapeutic Splice-Correcting Antisense Oligomers for Adult-Onset Pompe Disease with c.-32-13T>G Mutation
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Publisher
Springer US
Link
https://link.springer.com/content/pdf/10.1007/978-1-0716-2772-3_14
Reference12 articles.
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2. Umapathysivam K, Hopwood JJ, Meikle PJ (2005) Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Clin Chim Acta 361(1–2):191–198. https://doi.org/10.1016/j.cccn.2005.05.025
3. van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372(9646):1342–1353. https://doi.org/10.1016/S0140-6736(08)61555-X
4. Huie ML, Chen AS, Tsujino S et al (1994) Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. Hum Mol Genet 3(12):2231–2236
5. Boerkoel CF, Exelbert R, Nicastri C et al (1995) Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet 56(4):887–897
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