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DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemi-Opitz Syndrome model
Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7-dehydrocholesterol (7-DHC) in the brain tissue and...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3674775/ https://ncbi.nlm.nih.gov/pubmed/22182693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2011.12.011 |
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