@article{lobbes:hal-03688111,
TITLE = {A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report},
AUTHOR = {Lobbes, Herv{\'e} and Reynaud, Quitterie and Mainbourg, Sabine and Savy-Stortz, Claire and Ropert, Martine and Bardou-Jacquet, Edouard and Durupt, St{\'e}phane},
URL = {https://hal.science/hal-03688111},
JOURNAL = {Frontiers in Neuroscience},
PUBLISHER = {Frontiers},
VOLUME = {16},
PAGES = {906360},
YEAR = {2022},
DOI = {10.3389/fnins.2022.906360},
KEYWORDS = {aceruloplasminemia ; ferroxidase ; iron overload ; neurodegenerative disease ; genetic variation},
PDF = {https://hal.science/hal-03688111/file/pdf},
HAL_ID = {hal-03688111},
HAL_VERSION = {v1},
}