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Paper Details

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Hum Mol Genet
7
2022
-derived fibroblasts, 4A, ASNA1, BAG6, C, CAML, CAMLG, CDG, G splice variant, GET1, GET3, GET4, GET4 and GET3 deficiencies, Golgi SNARE complexes, TA protein, TA proteins, TRC, TRC complex, TRC40, UBL4A, WRB, c, congenital disorder of glycosylation, epilepsy, hypotonia, patient, patient fibroblasts, psychomotor disability, siCAMLG deleted Hela cells, structural brain abnormalities, syntaxin-5, transmembrane domain recognition complex, v-SNARE Bet1L
Author NameAffiliation
Bobby G NgSanford Burnham Prebys Medical Discovery Institute
Erika SoucheCenter for Human Genetics
Daisy RymenCenter for Metabolic Diseases, University Hospitals Leuven
Hudson H FreezeSanford Burnham Prebys Medical Discovery Institute
Jaak JaekenCenter for Metabolic Diseases, University Hospitals Leuven
Fran??ois FoulquierCNRS, University of Lille
Fran??ois FoulquierCNRS, University of Lille
Gert MatthijsCenter for Human Genetics
Gert MatthijsCenter for Human Genetics
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