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It is induced by mutations in the gene encoding 3-hydroxysterol- 7 -reductase (DHCR7), the enzyme catalyzing cholesterol formation by 7-dehydrocholesterol reduction

Their clinical information is summarized in Table 1.This study was conducted in accordance with the tenets of the Declaration of Helsinki and approved by the Institutional Review Boards of Hospital of University of Electronic Science and Technology of China & Sichuan Provincial Peoples Hospital and Shandong Provincial Hospital Affiliated to Shandong University

However, the most potent ligand for farnesoid X receptor (FXR, a nuclear receptor) is chenodeoxycholic acid (CDCA) in humans [7,14,15]

Parker-Athill and Tan, 2010

PLoS One 10 (10), e0139376