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Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3

Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of unknown etiology....

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:World J Gastroenterol
Prif Awduron: Sun, Hao-Zhe, Shi, Hong, Zhang, Shun-Cai, Shen, Xi-Zhong
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Baishideng Publishing Group Inc 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4292307/
https://ncbi.nlm.nih.gov/pubmed/25593501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v21.i2.699
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