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1 - 4 of 4 results found for AKR1D1.

  1. Human Δ4-3-Oxosteroid 5β-Reductase (AKR1D1) deficiency and steroid metabolism.

  2. A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver...

    Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the

  3. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in...

    BACKGROUND: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic acid and

  4. Characterization of the human CREB3L2 gene promoter.

    CREB3L2 encodes a member of the CREB3 family of transcription factors. We characterized its promoter region, showing that it is asymmetrically bidirectional, also driving the expression of a variant of AKR1D1. It has a CRE binding site which is

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