Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

CONTEXT: The cholesterol side-chain cleavage enzyme (P450scc), encoded by the CYP11A1 gene, converts cholesterol to pregnenolone to initiate steroidogenesis. Genetic defects in P450scc cause a rare autosomal recessive disorder that is clinically indistinguishable from congenital lipoid adrenal hyper...

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Detalhes bibliográficos
Main Authors: Sahakitrungruang, Taninee, Tee, Meng Kian, Blackett, Piers R., Miller, Walter L.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2011
Assuntos:
Endocrine Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3047228/
https://ncbi.nlm.nih.gov/pubmed/21159840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-1828
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