Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes

Glycogen-storage disease type II is an autosomal recessive-inherited disorder due to the deficiency of acid α-glucosidase. A large number of mutations in the acid α-glucosidase gene have been described to date. Among them, ∼15% are variations that may affect mRNA splicing process. In this study, we...

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Main Authors: Zampieri, Stefania, Buratti, Emanuele, Dominissini, Silvia, Montalvo, Anna Lisa, Pittis, Maria Gabriela, Bembi, Bruno, Dardis, Andrea
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060314/
https://ncbi.nlm.nih.gov/pubmed/21179066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.188
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