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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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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2020
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| Assuntos: | |
| Acesso em linha: | 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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