Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Nature Genetics
Lemaire, Mathieu M; Frémeaux-Bacchi, Véronique V; Schaefer, Franz F; Choi, Murim M; Tang, Wai Ho WH; Le Quintrec, Moglie M; Fakhouri, Fadi F; Taque, Sophie S; Nobili, François F; Martinez, Frank F; Ji, Weizhen W; Overton, John D JD; Mane, Shrikant M SM; Nürnberg, Gudrun G; Altmüller, Janine J; Thiele, Holger H; Morin, Denis D; Deschenes, Georges G; Baudouin, Véronique V; Llanas, Brigitte B; Collard, Laure L; Majid, Mohammed A MA; Simkova, Eva E; Nürnberg, Peter P; Rioux-Leclerc, Nathalie N; Moeckel, Gilbert W GW; Gubler, Marie Claire MC; Hwa, John J; Loirat, Chantal C; Lifton, Richard P RP