Title : Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Pub. Date : 2004 Sep-Oct

PMID : 15464432






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 SLOS results from mutations in 7-dehydrocholesterol Delta7 reductase (DHCR7), the gene encoding the final enzyme involved in cholesterol biosynthesis. Cholesterol 7-dehydrocholesterol reductase Homo sapiens