Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

E. Schollen, L. Dorland, T. J. De Koning, O. P. Van Diggelen, J. G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze, G. Matthijs

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