Title : Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.

Pub. Date : 2005 Oct

PMID : 16181459






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 SLOS is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, an enzyme that catalyses the final step in cholesterol biosynthesis. Cholesterol 7-dehydrocholesterol reductase Homo sapiens