Title : Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Pub. Date : 2005 Jul

PMID : 15954111






1 Functional Relationships(s)
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1 Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Cholesterol 7-dehydrocholesterol reductase Homo sapiens