Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7...

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Bibliographic Details
Main Authors: G Salen, S Shefer, A K Batta, G S Tint, G Xu, A Honda, M Irons, E R Elias
Format: Article
Language:English
Published: Elsevier 1996-01-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S002222752039146X