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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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Autors principals: | , , , , , , , , , |
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Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Public Library of Science
2011
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Matèries: | |
Accés en línia: | 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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