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A. Isoelectric focusing of serum transferrin. Heterozygous SLC37A4-c.1267C > T p. R423*-mutation causes CDG. w.t.: healthy control (wild-type). B. Mass spectrometry of transferrin glycopeptides. The partial block in Tf high mannose glycan chain processing in the SLC37A4 R423* heterozygote is specific for Tf Asn432.
