Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Publication year
2021Source
American Journal of Human Genetics, 108, 11, (2021), pp. 2130-2144ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics
Human Genetics
Neurology
Laboratory Medicine
Internal Medicine
Journal title
American Journal of Human Genetics
Volume
vol. 108
Issue
iss. 11
Page start
p. 2130
Page end
p. 2144
Subject
All institutes and research themes of the Radboud University Medical Center; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesThis item appears in the following Collection(s)
- Academic publications [227727]
- Faculty of Medical Sciences [86204]
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