A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
- DOI
- 10.1002/acn3.51131
- Published
- 2020 Sep
- Container
- Annals of clinical and translational neurology
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1002/acn3.51131,
title = {A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.},
author = {Rodríguez-Palmero A and Schlüter A and Verdura E and Ruiz M and Martínez JJ and Gourlaouen I and Ka C and Lobato R and Casasnovas C and Le Gac G and Fourcade S and Pujol A},
year = {2020},
journal = {Annals of clinical and translational neurology},
doi = {10.1002/acn3.51131},
url = {https://doi.org/10.1002/acn3.51131}
}RIS
TY - JOUR TI - A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy. AU - Rodríguez-Palmero A AU - Schlüter A AU - Verdura E AU - Ruiz M AU - Martínez JJ AU - Gourlaouen I AU - Ka C AU - Lobato R AU - Casasnovas C AU - Le Gac G AU - Fourcade S AU - Pujol A PY - 2020 JO - Annals of clinical and translational neurology DO - 10.1002/acn3.51131 UR - https://doi.org/10.1002/acn3.51131 ER -
APA
A, R., A, S., E, V., M, R., JJ, M., I, G., C, K., R, L., C, C., G, L. G., S, F., & A, P. (2020). A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.. Annals of clinical and translational neurology. https://doi.org/10.1002/acn3.51131
Source records
- pubmed · retrieved 2026-09-26T20:19:37.435Z