A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

C Kranz, J Denecke, M A Lehrman, S Ray, P Kienz, G Kreissel, D Sagi, J Peter-Katalinic, H H Freeze, T Schmid, S Jackowski-Dohrmann, E Harms, T Marquardt

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Medicine & Life Sciences