Heritable disorders of collagen [electronic resource] / Heather Yeowell.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Protein epidemiology: Publisher: London : Henry Stewart Talks, 2017Description: 1 online resource (1 streaming video file (47 min.) : color, sound)Subject(s): Collagen disorders | Collagen | 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 ConformationOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Updated version of a talk first published in 2007.
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.
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Mode of access: World Wide Web.