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Article

K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.

Human mutation - 1 May 2008

Do Ron, Paré Guillaume, Montpetit Alexandre, Hudson Thomas J, Gaudet Daniel, Engert James C

Abstract excerpt

Squalene synthase is an important component of the cholesterol biosynthetic pathway, and inhibitors of this enzyme have been shown to lower plasma cholesterol levels. Previously, we sequenced the squalene synthase gene, FDFT1 (farnesyl-diphosphate farnesyltransferase), and identified several SNPs...

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Identifiers

PMID: 18350552
DOI: 10.1002/humu.20702

Genes

FDFT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18350552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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