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...
| প্রধান লেখক: | , , , |
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| বিন্যাস: | Journal article |
| প্রকাশিত: |
Oxford University Press
2015
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