Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

Bile acid synthesis plays a critical role in the maintenance of mammalian cholesterol homeostasis. The CYP7A1 gene encodes the enzyme cholesterol 7α-hydroxylase, which catalyzes the initial step in cholesterol catabolism and bile acid synthesis. We report here a new metabolic disorder presenting wit...

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Huvudupphovsmän: Pullinger, Clive R., Eng, Celeste, Salen, Gerald, Shefer, Sarah, Batta, Ashok K., Erickson, Sandra K., Verhagen, Andrea, Rivera, Christopher R., Mulvihill, Sean J., Malloy, Mary J., Kane, John P.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2002
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC151029/
https://ncbi.nlm.nih.gov/pubmed/12093894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI15387
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