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Article

Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population.

Genetic testing - 1 Sept 2008

Sirois Francine, Gbeha Elias, Sanni Ambaliou, Chretien Michel, Labuda Damian, Mbikay Majambu

Abstract excerpt

PCSK9 is a liver-secreted blood protein that promotes the degradation of low-density lipoprotein receptors, leading to reduced hepatic uptake of plasma cholesterol. Nucleotide variations in its gene have been linked to hypo- and hyper-cholesterolemia. Two nonsense mutations, Y142X and C679X, are associated to lifelong hypocholesterolemia and a remarkable protection against coronary heart disease (CHD) in African...

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Identifiers

PMID: 18652535
DOI: 10.1089/gte.2008.0013

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PCSK9

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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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