Maintenance work on the ZORA database servers is scheduled for Thursday 25th July 2019 from 19:00-20:00. During this period ZORA and JDB will not be available. Thank you for your understanding.
Paesold-Burda, P; Maag, C; Troxler, H; Foulquier, F; Kleinert, P; Schnabel, S; Baumgartner, M; Hennet, T (2009). Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Human Molecular Genetics, 18(22):4350-4356.
Vleugels, W; Haeuptle, M A; Ng, B G; Michalski, J C; Battini, R; Dionisi-Vici, C; Ludman, M D; Jaeken, J; Foulquier, F; Freeze, H H; Matthijs, G; Hennet, T (2009). RFT1 deficiency in three novel CDG patients. Human Mutation, 30(10):1428-1434.
Jaeken, J; Vleugels, W; Régal, L; Corchia, C; Goemans, N; Haeuptle, M A; Foulquier, F; Hennet, T; Matthijs, G; Dionisi-Vici, C (2009). RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation. Journal of Inherited Metabolic Disease, 32(S1):335-338.