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2.4.1.260
medicine
a patient with heterozygous variants in the ALG12 gene, c.367 G>A (G123R) and c.1439 T>C (L480P), shows serum transferrin with underoccupancy of N-glycosylation sites. Total serum proteins and IgG N-glycans show accumulating amounts of definite high-mannose and hybrid structures. ALG12-congenital disorder of glycosylation displays CDG-I and II defects and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans
759317
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