Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency in the terminal step of cholesterol biosynthesis: the conversion of 7-dehydrocholesterol (7DHC) to cholesterol (C), catalyzed by 7-dehydrocholesterol reductase (DHCR7). This disorder exhibits several phenotypic traits including dysmorphia and...

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Detalhes bibliográficos
Main Authors: Matabosch, Xavier, Ying, Lee, Serra, Montserrat, Wassif, Christopher A., Porter, Forbes D., Shackleton, Cedric, Watson, Gordon
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2966472/
https://ncbi.nlm.nih.gov/pubmed/20800683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jsbmb.2010.08.004
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