Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
- DOI
- 10.1002/humu.23867
- Published
- 2019 Nov
- Container
- Human mutation
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1002/humu.23867,
title = {Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.},
author = {Goina E and Musco L and Dardis A and Buratti E},
year = {2019},
journal = {Human mutation},
doi = {10.1002/humu.23867},
url = {https://doi.org/10.1002/humu.23867}
}RIS
TY - JOUR TI - Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology. AU - Goina E AU - Musco L AU - Dardis A AU - Buratti E PY - 2019 JO - Human mutation DO - 10.1002/humu.23867 UR - https://doi.org/10.1002/humu.23867 ER -
APA
E, G., L, M., A, D., & E, B. (2019). Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.. Human mutation. https://doi.org/10.1002/humu.23867
Source records
- pubmed · retrieved 2026-09-26T20:57:15.828Z