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Article

The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.

European journal of human genetics : EJHG - 1 Oct 2012

Kolder Iris C R M, Michels Michelle, Christiaans Imke, Ten Cate Folkert J, Majoor-Krakauer Danielle, Danser Alexander H J, Lekanne Deprez Robert H, Tanck Michael W T, Wilde Arthur A M, Bezzina Connie R, Dooijes Dennis

Abstract excerpt

The phenotypic variability of hypertrophic cardiomyopathy (HCM) in patients with identical pathogenic mutations suggests additional modifiers. In view of the regulatory role in cardiac function, blood pressure, and electrolyte homeostasis, polymorphisms in the renin-angiotensin-aldosterone system (RAAS) are candidates for modifying phenotypic expression. In order to investigate whether RAAS polymorphisms modulate...

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Share to Cardiomyopathy, Hypertrophic, Familial
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hypertrophy, Left Ventricular

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Source

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Identifiers

PMID: 22569109
DOI: 10.1038/ejhg.2012.48
PMCID: PMC3449069

Genes

MYBPC3
ACE
AGT
AGTR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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