Congenital disorders of N-glycosylation
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Format: | Electronic Video |
Language: | English |
Published: |
London :
Henry Stewart Talks,
2012.
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Series: | Henry Stewart talks. Biomedical & life sciences collection. Glycobiology.
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Subjects: | |
Online Access: | https://hstalks.com/bs/2432/ Series |
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Table of Contents:
- Contents: Orphan diseases
- Post-translational modifications
- Definition of N-glycosylation
- The significance of the extra-cellular location of N-glycosylation
- Diagnosis and clinical features of patients with Congenital Disorders of Glycosylation (CDGs)
- The biochemical mechanisms of normal N-glycosylation
- Description of 47 mutations in the N-glycosylation pathway that result in CDG.