Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome
Smith–Lemli–Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impa...
| Main Authors: | , , , |
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| Format: | Journal article |
| Published: |
Oxford University Press
2015
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