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Paper Details

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
J Inherit Metab Dis
14
2019
CDG, Congenital Disorder of Glycosylation, GP130, ICAM1, OST, SSR1, SSR3, SSR3 protein, SSR4, TRAP, TRAP complex, c, congenital disorder of glycosylation, congenital disorders of glycosylation, fibroblasts, genetic disorders, intellectual and developmental disabilities, oligosaccharyl transferase, patient, sensorineural deafness, signal sequence receptor 3, translocon-associated protein, translocon-associated protein complex subunit SSR3, type I CDG, wild-type SSR3
Author NameAffiliation
Bobby G NgSanford Burnham Prebys Medical Discovery Institute
Kati J BuckinghamUniversity of Washington
Martin KircherUniversity of Washington
Deborah A NickersonUniversity of Washington
Deborah A NickersonUniversity of Washington
Jay ShendureUniversity of Washington
Jay ShendureHoward Hughes Medical Institute, University of Washington
Jay ShendureUniversity of Washington
Jay ShendureHoward Hughes Medical Institute, University of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Hudson H FreezeSanford Burnham Prebys Medical Discovery Institute
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