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Book Cover
Streaming video
Author Yeowell, Heather, (Duke University Medical Center, USA), speaker

Title Heritable disorders of collagen / Heather Yeowell
Published London : Henry Stewart Talks, 2017
Online access available from:
HSTalks Biomedical & Life Sciences Collection    View Resource Record  


Description 1 online resource (1 streaming video file (47 min.) : color, sound)
Series Protein epidemiology : understanding human diseases at the level of protein structure and function, 2056-452X
Henry Stewart talks. Biomedical & life sciences collection. Protein folding, aggregation and design : concepts, experiments, theories and mechanisms
Contents Contents: Collagen biosynthesis -- Collagen structural assemblies -- Linkage of disorders to collagen mutations -- Linkage of Ehlers-Danlos syndromes (EDS) to either collagen mutations or enzyme deficiencies -- Kyphoscoliotic type (EDS VIA) and Lysyl Hydroxylase (LH) deficiency -- Mutational analysis of LH1 gene -- EDS VIB -- LH isoforms -- LH2 splicing
Notes Animated audio-visual presentation with synchronized narration
Revised version of a talk first published in 2007
Title from title frames
Mode of access: World Wide Web
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Subject Collagen disorders
Genetic disorders.
Amino Acid Sequence.
Collagen Diseases -- genetics.
Collagen -- chemistry.
Collagen -- genetics.
Collagen -- metabolism.
DNA Mutational Analysis.
Ehlers-Danlos Syndrome -- enzymology.
Ehlers-Danlos Syndrome -- genetics.
Genetic Diseases, Inborn.
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase.
Protein Conformation.
Genre/Form Video recordings.
Form Streaming video