MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

B. Schenk, T. Imbach, C. G. Frank, C. E. Grubenmann, G. V. Raymond, H. Hurvitz, A. Raas-Rotschild, A. S. Luder, J. Jaeken, E. G. Berger, G. Matthijs, T. Hennet, M. Aebi

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Medicine & Life Sciences