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Article

A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I.

Journal of endocrinological investigation - 1 Feb 2011

Carvajal C A, Stehr C B, González P A, Riquelme E M, Montero T, Santos M J, Kalergis A M, Fardella C E

Abstract excerpt

UNLABELLED: Familial hyperaldosteronism type I (FH-I) is an autosomal dominant disorder caused by an unequal cross-over of the gene encoding steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), giving rise to a chimeric CYP11B1/CYP11B2 gene that displays aldosterone synthase acti...

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Share to Aged, 80 and over
Share to Crossing Over, Genetic
Share to Cytochrome P-450 CYP11B2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

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Share to Polymorphism, Genetic

Share to Steroid 11-beta-Hydroxylase

Source

Identifiers

PMID: 20634641
DOI: 10.1007/BF03347044

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20634641-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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