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Article

CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity.

The Journal of clinical endocrinology and metabolism - 1 Feb 2005

Ganapathipillai Santhirasekaran, Laval Guillaume, Hoffmann Irene S, Castejon Ana M, Nicod Jérôme, Dick Bernhard, Frey Felix J, Frey Brigitte M, Cubeddu Luigi X, Ferrari Paolo

Abstract excerpt

Reduced adrenal 11 beta-hydroxylation has been associated with an aldosterone synthase (CYP11B2) polymorphism. The 11 beta-hydroxylase gene (CYP11B1) lies close to CYP11B2. We hypothesize that a molecular variant in CYP11B2 is in linkage disequilibrium (LD) with a key quantitative trait in CYP11B1 determining this phenotype. Polymorphisms and inferred haplotypes at CYP11B loci were studied in two independent...

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PMID: 15507509
DOI: 10.1210/jc.2004-1031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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