Article

Genome-Wide Association Study and Meta-Analysis of Phytosterols Identifies a Novel Locus for Serum Levels of Campesterol

2023-09-08

Abstract excerpt

<h4>Background</h4> Sitosterolemia is a rare inherited disorder caused by mutations in the ABCG5/ABCG8 genes. These genes encode proteins that are involved in the transport of plant sterols (phytosterols) out of the body. Mutations in these genes lead to decreased excretion of phytosterols, which can accumulate in the body and lead to a variety of health problems, including xanthoma formation, atherosclerosis, and...

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Literature Corpus work: f9857f8d-05d2-584c-ba3d-549a216e59b8
DOI: 10.1101/2023.09.06.23295162

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