Title : Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

Pub. Date : 2016 Feb 15

PMID : 26685159






1 Functional Relationships(s)
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1 Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Cholesterol 7-dehydrocholesterol reductase Homo sapiens