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Mutational Analysis of CYP27A1: Assessment of 27-Hydroxylation of Cholesterol and 25-Hydroxylation of Vitamin D
The CYP27A1 gene encodes a mitochondrial enzyme which modulates the acidic biosynthetic pathway for bile acids beginning with the 27-hydroxylation of cholesterol. CYP27A1 also 25-hydroxylates vitamin D(3). Gene mutations cause cerebrotendinous xanthomatosis (CTX), an autosomal recessive disorder, an...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2707179/ https://ncbi.nlm.nih.gov/pubmed/17697869 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.metabol.2007.04.023 |
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