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A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

DNA variants affecting mRNA expression and processing in genetic diseases are often missed or poorly characterized. We previously reported a generic assay to identify variants that affect mRNA expression and splicing in Pompe disease, a monogenic disorder caused by deficiency of acid α-glucosidase (...

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書誌詳細
出版年:Eur J Hum Genet
主要な著者: Bergsma, Atze J., in ’t Groen, Stijn L. M., Catalano, Fabio, Yamanaka, Manjiro, Takahashi, Satoru, Okumiya, Toshika, van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
フォーマット: Artigo
言語:Inglês
出版事項: Springer International Publishing 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940403/
https://ncbi.nlm.nih.gov/pubmed/33168984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00751-3
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