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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...
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| Vydáno v: | Hum Mol Genet |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4743690/ https://ncbi.nlm.nih.gov/pubmed/26685159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv507 |
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