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27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith–Lemli–Opitz syndrome: a novel metabolic pathway

✍ Scribed by Christopher A Wassif; Jinghua Yu; Jisong Cui; Forbes D Porter; Norman B Javitt


Book ID
117213631
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
246 KB
Volume
68
Category
Article
ISSN
0039-128X

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the