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- 2016
Clinical and Molecular Characterization of ALG1-CDGDOI: 10.15844/pedneurbriefs-30-2-5 Keywords: Asparagine-Linked Glycosylation Protein 1, CDG, Carbohydrate-Deficient Transferrin, Xeno-Tetrasaccharide Abstract: Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected individuals with ALG1-CDG from 32 families
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