Title : Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Pub. Date : 2005 Jul

PMID : 15979035






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. Cholesterol 7-dehydrocholesterol reductase Homo sapiens