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The bile acid synthetic gene 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
We used expression cloning to isolate cDNAs encoding a microsomal 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (C(27) 3β-HSD) that is expressed predominantly in the liver. The predicted product shares 34% sequence identity with the C(19) and C(21) 3β-HSD enzymes, which participate in steroid hormone...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2000
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC301421/ https://ncbi.nlm.nih.gov/pubmed/11067870 |
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