Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

CONTEXT: Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). OBJECTIVE: StAR gene mutations causing partial loss of function manif...

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Main Authors: Flück, Christa E., Pandey, Amit V., Dick, Bernhard, Camats, Núria, Fernández-Cancio, Mónica, Clemente, María, Gussinyé, Miquel, Carrascosa, Antonio, Mullis, Primus E., Audi, Laura
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103540/
https://ncbi.nlm.nih.gov/pubmed/21647419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020178
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