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PPARA is a major regulator of fatty acid metabolism and lipid metabolism in liver 31,32 , and hepatocytes from BWS livers were enriched in many PPARA-associated downstream processes

Althaus, J

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In addition, we utilized these biomarkers to identify a novel HPL rescue function under conditions of ovarian failure-induced kidney abnormalities

Although three representative mutations identified in the three largest pedigrees of 5-reductase-2 deficiency are described above, there are documented mutations in all five exons of the gene, ranging from a single point defect to a deletion of the entire gene as noted in Figure 1(1, 4, 5)

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