Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation
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Publication year
2019Source
European Journal of Human Genetics, 27, 11, (2019), pp. 1757-1760ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Laboratory Medicine
Journal title
European Journal of Human Genetics
Volume
vol. 27
Issue
iss. 11
Page start
p. 1757
Page end
p. 1760
Subject
Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Laboratory Medicine - Radboud University Medical Center; Neurology - Radboud University Medical CenterAbstract
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
This item appears in the following Collection(s)
- Academic publications [245263]
- Electronic publications [132514]
- Faculty of Medical Sciences [93208]
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