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Article

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

The Journal of clinical endocrinology and metabolism - 1 Mar 2010

Bens Susanne, Mohn Angelika, Yüksel Bilgin, Kulle Alexandra E, Michalek Matthias, Chiarelli Franco, Nuri Ozbek Mehmet, Leuschner Ivo, Grötzinger Joachim, Holterhus Paul-Martin, Riepe Felix G

Abstract excerpt

CONTEXT: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia. OBJECTIVE: The objective of the investigation was to study the functional and structural consequences of three novel StAR mutations (p.N148K in an...

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Source

Identifiers

PMID: 20080861
DOI: 10.1210/jc.2009-1176

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.PMID 20080861Read ↗

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