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Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum γ-glutamyltransferase. Immunohistochemical...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
The WJG Press and Baishideng
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2744194/ https://ncbi.nlm.nih.gov/pubmed/19750581 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.15.4339 |
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