Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.
- DOI
- 10.3389/fgene.2024.1477291
- Published
- 2024
- Container
- Frontiers in genetics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3389/fgene.2024.1477291,
title = {Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.},
author = {Bevilacqua JA and Al-Salti AM and Al Madani A and Alves da Fonseca A and Durmus H and Chai J and Alshehri A and Ribeiro MG and Sgobbi P and Nikitin SS and Vargas S and Furtado A and Thibault N and Araujo R and Daba N},
year = {2024},
journal = {Frontiers in genetics},
doi = {10.3389/fgene.2024.1477291},
url = {https://doi.org/10.3389/fgene.2024.1477291}
}RIS
TY - JOUR TI - Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis. AU - Bevilacqua JA AU - Al-Salti AM AU - Al Madani A AU - Alves da Fonseca A AU - Durmus H AU - Chai J AU - Alshehri A AU - Ribeiro MG AU - Sgobbi P AU - Nikitin SS AU - Vargas S AU - Furtado A AU - Thibault N AU - Araujo R AU - Daba N PY - 2024 JO - Frontiers in genetics DO - 10.3389/fgene.2024.1477291 UR - https://doi.org/10.3389/fgene.2024.1477291 ER -
APA
JA, B., AM, A., A, A. M., A, A. D. F., H, D., J, C., A, A., MG, R., P, S., SS, N., S, V., A, F., N, T., R, A., & N, D. (2024). Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.. Frontiers in genetics. https://doi.org/10.3389/fgene.2024.1477291
Source records
- pubmed · retrieved 2026-09-26T02:21:55.182Z
- europe-pmc · retrieved 2026-09-26T02:21:55.197Z
- doaj · retrieved 2026-09-26T02:21:55.221Z