Title : Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

Pub. Date : 2003 Sep 15

PMID : 12949967






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The syndrome is caused by a block in cholesterol biosynthesis at the level of 7-dehydrocholesterol reductase (7-DHCR), which results in elevated levels of the cholesterol precursor 7-dehydrocholesterol (7-DHC) and its isomer 8-dehydrocholesterol (8-DHC). Cholesterol 7-dehydrocholesterol reductase Homo sapiens
2 The syndrome is caused by a block in cholesterol biosynthesis at the level of 7-dehydrocholesterol reductase (7-DHCR), which results in elevated levels of the cholesterol precursor 7-dehydrocholesterol (7-DHC) and its isomer 8-dehydrocholesterol (8-DHC). Cholesterol 7-dehydrocholesterol reductase Homo sapiens
3 The syndrome is caused by a block in cholesterol biosynthesis at the level of 7-dehydrocholesterol reductase (7-DHCR), which results in elevated levels of the cholesterol precursor 7-dehydrocholesterol (7-DHC) and its isomer 8-dehydrocholesterol (8-DHC). Cholesterol 7-dehydrocholesterol reductase Homo sapiens