A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.
- DOI
- 10.1038/s41431-020-00751-3
- Published
- 2021 Mar
- Container
- European journal of human genetics : EJHG
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-020-00751-3,
title = {A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.},
author = {Bergsma AJ and In 't Groen SLM and Catalano F and Yamanaka M and Takahashi S and Okumiya T and van der Ploeg AT and Pijnappel WWMP},
year = {2021},
journal = {European journal of human genetics : EJHG},
doi = {10.1038/s41431-020-00751-3},
url = {https://doi.org/10.1038/s41431-020-00751-3}
}RIS
TY - JOUR TI - A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. AU - Bergsma AJ AU - In 't Groen SLM AU - Catalano F AU - Yamanaka M AU - Takahashi S AU - Okumiya T AU - van der Ploeg AT AU - Pijnappel WWMP PY - 2021 JO - European journal of human genetics : EJHG DO - 10.1038/s41431-020-00751-3 UR - https://doi.org/10.1038/s41431-020-00751-3 ER -
APA
AJ, B., SLM, I. '. G., F, C., M, Y., S, T., T, O., AT, V. D. P., & WWMP, P. (2021). A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-020-00751-3
Source records
- pubmed · retrieved 2026-09-26T20:50:42.224Z