TY  - ADVS
AU  - Yeowell,Heather
TI  - Heritable disorders of collagen
T2  - Protein epidemiology : understanding human diseases at the level of protein structure and function,
PY  - 2017///
CY  - London
PB  - Henry Stewart Talks
KW  - Collagen disorders
KW  - Collagen
KW  - Genetic disorders
KW  - Amino Acid Sequence
KW  - Collagen Diseases
KW  - genetics
KW  - chemistry
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Ehlers-Danlos Syndrome
KW  - enzymology
KW  - Genetic Diseases, Inborn
KW  - Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
KW  - Protein Conformation
N1  - 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
UR  - https://hstalks.com/bs/70/
UR  - https://hstalks.com/bs/p/33/
ER  -