title: Clinical and Molecular Characterization of ALG1-CDG.
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.
authors.affiliation: Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA.
authors.forename: Radhika
authors.initials: R
authors.lastname: Dhamija
authors.affiliation: Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA.
authors.forename: Chelsea
authors.initials: C
authors.lastname: Chambers
keywords: Asparagine-Linked Glycosylation Protein 1; CDG; Carbohydrate-Deficient Transferrin; Xeno-Tetrasaccharide