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Article

A novel mutation in the steroidogenic acute regulatory protein gene promoter leading to reduced promoter activity.

Journal of molecular endocrinology - 1 Aug 2006

Casal Andres J, Sinclair Victoria J P, Capponi Alessandro M, Nicod Jérôme, Huynh-Do Uyen, Ferrari Paolo

Abstract excerpt

We have identified a novel cytosine/thymidine polymorphism of the human steroidogenic acute regulatory (StAR) gene promoter located 3 bp downstream of the steroidogenic factor-1 (SF-1)-binding site and 9 bp upstream of the TATA box (ATTTAAG). Carriers of this mutation have a high prevalence of primary aldosteronism. In transfection experiments, basal StAR promoter activity was unaltered by the mutation in murine...

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Identifiers

PMID: 16901925
DOI: 10.1677/jme.1.02082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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