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Article

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

European journal of human genetics : EJHG - 1 Mar 2021

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

Abstract excerpt

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 (GAA). However, this assay could miss mRNA that is subjected to degradation. Here, we inhibited mRNA degradation...

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Identifiers

PMID: 33168984
DOI: 10.1038/s41431-020-00751-3
PMCID: PMC7940403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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