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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Alehan, Fusun (2016)Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a beta 1,4 mannosyltransferase that catalyzes the addition of ...