中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 36 Issue 7
Jul.  2020
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Progressive familial intrahepatic cholestasis type 3: A report of two cases in one pedigree

DOI: 10.3969/j.issn.1001-5256.2020.07.032
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  • Published Date: 2020-07-20
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    [3]DAVIT-SPRAUL A,GONZALES E,BAUSSAN C,et al.Progressive familial intrahepatic cholestasis[J].Orphanet J Rare Dis,2009,4:1.
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    [9]KNISELY AS,STRANTNIEKS S,SCHEIMANN AO,et al.Bile salt export pump(BSEP)deficiency is a significant risk factor for both pediatric and adult hepatobiliary malignancy[J].Hepatology,2005,42(4):380A-381A.
    [10]GUDBJARTSSON DF,HELGASON H,GUDJONSSON SA,et al.Large-scale whole-genome sequencing of the Icelandic population[J].Nat Genet,2015,47(5):435-444.
    [11]MHATRE S,WANG Z,NAGRANI R,et al.Common genetic variation and risk of gallbladder cancer in India:A case-control genomewide association study[J].Lancet Oncol,2017,18(4):535-544.
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    [13]REICHERT MC,LAMMERT F.ABCB4 gene aberrations in human liver disease:An evolving spectrum[J].Semin Liver Dis,2018,38(4):299-307.
    [14]SIEW SM,CUNNINGHAM SC,ZHU E,et al.Prevention of cholestatic liver diseaseand reduced tumorigenicity in a murine model of PF-IC Type 3 using hybrid AAV-piggy Bac gene therapy[J].Hepatology,2019,70(6):2047-2061.
    [15]ARONSON SJ,BAKKER RS,SHI X,et al.Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice[J].J Hepatol,2019,71(1):153-162.
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