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Congenital disorders of N-glycosylation / Harry Schachter.
- Format:
- Video
- Author/Creator:
- Schachter, H. (Harry), Speaker.
- Series:
- Henry Stewart talks. Biomedical & life sciences collection. Glycobiology.
- Glycobiology : the discovery of glycan function and its fundamental applications, 2056-452X
- Language:
- English
- Subjects (All):
- Genetic disorders.
- Glycosylation.
- Congenital Disorders of Glycosylation.
- Medical Subjects:
- Congenital Disorders of Glycosylation.
- Glycosylation.
- Genre:
- Video recordings.
- Physical Description:
- 1 online resource (1 streaming video file (31 min.)) : color, sound.
- polychrome
- Place of Publication:
- London : Henry Stewart Talks, 2012.
- System Details:
- Mode of access: World Wide Web.
- video file
- 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.
- Notes:
- Animated audio-visual presentation with synchronized narration.
- Title from title frames.
- Publisher Number:
- 3094 Henry Stewart Talks
- Access Restriction:
- Restricted for use by site license.
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