Yeowell, Heather,
Heritable disorders of collagen [electronic resource] / Heather Yeowell. - London : Henry Stewart Talks, 2017. - 1 online resource (1 streaming video file (47 min.) : color, sound). - Protein epidemiology : understanding human diseases at the level of protein structure and function, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology. .
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
1395 Henry Stewart Talks
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 Conformation.
Heritable disorders of collagen [electronic resource] / Heather Yeowell. - London : Henry Stewart Talks, 2017. - 1 online resource (1 streaming video file (47 min.) : color, sound). - Protein epidemiology : understanding human diseases at the level of protein structure and function, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology. .
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
1395 Henry Stewart Talks
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 Conformation.