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Paper Details

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
35
2016
-, 1,4 mannosyltransferase, ALG1, ALG1-CDG, CDG, Congenital disorders of glycosylation, N, NeuAc-Gal-GlcNAc2, Patients, alg1, autosomal recessive disorder, dolichol, mannose, patient, patients, tetrasaccharide, xeno, yeast
Author NameAffiliation
Bobby G NgSanford Burnham Prebys Medical Discovery Institute
Daisy RymenCenter for Human Genetics, University of Leuven
Daisy RymenCenter for Metabolic Diseases, University Hospital of Leuven
Kimiyo RaymondMayo Clinic College of Medicine
Martin KircherUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Kati J BuckinghamUniversity of Washington
Francis Sessions ColeWashington University School of Medicine
Gregory M CooperHudsonAlpha Institute for Biotechnology
Gregory M CooperHudsonAlpha Institute for Biotechnology
William A GahlNIH and National Human Genome Research Institute
William A GahlNIH and National Human Genome Research Institute
Miao HeThe Children's Hospital of Philadelphia
Jaak JaekenCenter for Metabolic Diseases, University Hospital of Leuven
Deborah A NickersonUniversity of Washington
Deborah A NickersonUniversity of Washington
Valérie RaceCenter for Human Genetics, University of Leuven
Jay ShendureUniversity of Washington
Jay ShendureHoward Hughes Medical Institute, University of Washington
Jay ShendureUniversity of Washington
Jay ShendureHoward Hughes Medical Institute, University of Washington
Erika SoucheCenter for Human Genetics, University of Leuven
Lynne A WolfeNIH and National Human Genome Research Institute
Lynne A WolfeNIH and National Human Genome Research Institute
Gert MatthijsCenter for Human Genetics, University of Leuven
Gert MatthijsCenter for Human Genetics, University of Leuven
Hudson H FreezeSanford Burnham Prebys Medical Discovery Institute
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Release 1.2