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Results 1 - 1 of 1 for 5BETA -"PREGNANE-3,20-DIONE"
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  1. Congenital bile acid synthesis defect type 2 
    ... AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. ... The effect of disease associated point mutations on 5beta-reductase (AKR1D1) enzyme function. Chem Biol Interact. 2011 ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics