Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. Both 7- and 8-DHC are suscept...

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Bibliographic Details
Main Authors: Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, Ned A. Porter
Format: Article
Language:English
Published: Elsevier 2013-01-01
Series:Journal of Lipid Research
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520417791