Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
- DOI
- 10.1186/s12881-018-0592-y
- Published
- 2018-05-08
- Container
- BMC Medical Genetics
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s12881-018-0592-y,
title = {Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family},
author = {Liena E. O. Elsayed and Inaam N. Mohammed and Ahlam A. A. Hamed and Maha A. Elseed and Mustafa A. M. Salih and Ashraf Yahia and Rayan A. Siddig and Mutaz Amin and Mahmoud Koko and Mustafa I. Elbashir and Muntaser E. Ibrahim and Alexis Brice and Ammar E. Ahmed and Giovanni Stevanin},
year = {2018},
journal = {BMC Medical Genetics},
doi = {10.1186/s12881-018-0592-y},
url = {https://doi.org/10.1186/s12881-018-0592-y}
}RIS
TY - JOUR TI - Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family AU - Liena E. O. Elsayed AU - Inaam N. Mohammed AU - Ahlam A. A. Hamed AU - Maha A. Elseed AU - Mustafa A. M. Salih AU - Ashraf Yahia AU - Rayan A. Siddig AU - Mutaz Amin AU - Mahmoud Koko AU - Mustafa I. Elbashir AU - Muntaser E. Ibrahim AU - Alexis Brice AU - Ammar E. Ahmed AU - Giovanni Stevanin PY - 2018 JO - BMC Medical Genetics DO - 10.1186/s12881-018-0592-y UR - https://doi.org/10.1186/s12881-018-0592-y ER -
APA
Elsayed, L. E. O., Mohammed, I. N., Hamed, A. A. A., Elseed, M. A., Salih, M. A. M., Yahia, A., Siddig, R. A., Amin, M., Koko, M., Elbashir, M. I., Ibrahim, M. E., Brice, A., Ahmed, A. E., & Stevanin, G. (2018). Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. BMC Medical Genetics. https://doi.org/10.1186/s12881-018-0592-y
Source records
- crossref · retrieved 2026-09-26T04:31:16.540Z