@article{lemaire:hal-01064383,
TITLE = {Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome},
AUTHOR = {Lemaire, Mathieu and Fr{\'e}meaux-Bacchi, V{\'e}ronique and Schaefer, Franz and Choi, Murim and Tang, Wai Ho and Le Quintrec, Moglie and Fakhouri, Fadi and Taque, Sophie and Nobili, Fran{\c c}ois and Martinez, Frank and Ji, Weizhen and Overton, John D. and Mane, Shrikant M. and N{\"u}rnberg, Gudrun and Altm{\"u}ller, Janine and Thiele, Holger and Morin, Denis and Deschenes, Georges and Baudouin, V{\'e}ronique and Llanas, Brigitte and Collard, Laure and Majid, Mohammed A. and Simkova, Eva and N{\"u}rnberg, Peter and Rioux-Leclerc, Nathalie and Moeckel, Gilbert W. and Gubler, Marie Claire and Hwa, John and Loirat, Chantal and Lifton, Richard P.},
URL = {https://hal.science/hal-01064383},
JOURNAL = {Nature Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {45},
NUMBER = {5},
PAGES = {531--536},
YEAR = {2013},
DOI = {10.1038/ng.2590},
KEYWORDS = {Acute Kidney Injury ; Child ; Preschool ; Diacylglycerol Kinase ; Exome ; Female ; Genes ; Recessive ; Hemolytic-Uremic Syndrome ; Humans ; Immunoenzyme Techniques ; Infant ; Male ; Molecular Sequence Data ; Mutation ; Renal Insufficiency ; Chronic ; Thrombocytopenia ; Thrombotic Microangiopathies},
HAL_ID = {hal-01064383},
HAL_VERSION = {v1},
}