Heritable disorders of collagen

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Heritable disorders of collagen

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Bibliographic Details
Other Authors:	Yeowell, Heather (Speaker)
Format:	Electronic Video
Language:	English
Published:	London : Henry Stewart Talks, 2017.
Series:	Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology.
Subjects:	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.
Online Access:	https://hstalks.com/bs/70/ Series
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Table of 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.