Article

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

2019-09-26

Abstract excerpt

<h4>Background</h4> Familial sitosterolemia is a rare, recessive Mendelian disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols. Affected individuals typically have complete genetic deficiency – homozygous loss-of-function (LoF) variants — in the ATP-binding cassette transporter G5 ( ABCG5 ) or G8 ( ABCG8 ) genes, and have substantially elevated plasma sitosterol and low-...

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Literature Corpus work: 6eac3a12-0f83-5c14-be51-b81dea58d91e
DOI: 10.1101/780734

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