Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

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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Bibliographic Details
Main Authors: Christa E Flück, Amit V Pandey, Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E Mullis, Laura Audi
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3103540?pdf=render

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http://europepmc.org/articles/PMC3103540?pdf=render

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