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Congenital disorders of N-glycosylation [electronic resource] / Harry Schachter.

By: Schachter, H. (Harry) [spk]Material type: FilmFilmSeries: Henry Stewart talksBiomedical & life sciences collection. Glycobiology: Publisher: London : Henry Stewart Talks, 2012Description: 1 online resource (1 streaming video file (31 min.) : color, sound)Subject(s): Genetic disorders | Glycosylation | Congenital Disorders of Glycosylation | GlycosylationOnline resources: Click here to access online | Series
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.
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Animated audio-visual presentation with synchronized narration.

Title from title frames.

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.

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Mode of access: World Wide Web.

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