Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome)

Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency in the terminal step of cholesterol biosynthesis, which is catalyzed by 7-dehydrocholesterol reductase (DHCR7). The disorder exhibits several phenotypic traits including dysmorphia and mental retardation with a broad range of severity. Pathog...

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Hlavní autoři: Marcos, Josep, Shackleton, Cedric H.L., Buddhikot, Madhavee M., Porter, Forbes D., Watson, Gordon L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2911235/
https://ncbi.nlm.nih.gov/pubmed/17714750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.steroids.2007.07.002
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