%0 Journal Article
%T Clinical and Molecular Characterization of ALG1-CDG
%A Chelsea Chambers
%A Radhika Dhamija
%J Archive of "Pediatric Neurology Briefs".
%D 2016
%R 10.15844/pedneurbriefs-30-2-5
%X 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
%K Asparagine-Linked Glycosylation Protein 1
%K CDG
%K Carbohydrate-Deficient Transferrin
%K Xeno-Tetrasaccharide
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836/