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Mutations in SRD5B1 (AKR1D1), the gene encoding Δ(4)-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy
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 7α-hydroxy-3-oxo-4-cholenoic acid and 7α,12α-dihydroxy-3-oxo-4-cholenoic acid. It has been proposed that some (but not all) of these h...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Copyright 2003 by Gut
2003
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1773813/ https://ncbi.nlm.nih.gov/pubmed/12970144 |
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