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- W3140571837 abstract "进步家庭 intrahepatic cholestasis 类型 1 是被低浆液 -glutamyltransferase 层次在 ATP8B1 由于变化描绘的稀罕疾病。我们在场经历了坚持的显著瘙痒十八年和周期性的黄疸 13 年的 23 岁的男性，除了 cholestasis，那最后变得致命。全部编码的基因定序研究(exon ) ATP8B1 和 ABCB11 的序列揭开了新奇异质接合的错误感觉 3035G > T 变化(S1012I ) 和同义的 696T > 在 ATP8B1 的 C 变化。病人前进与损害家庭 intrahepatic cholestasis 被联系不仅(FIC1 ) 1 工作而且损害胆汁盐出口泵表示由于损害 FIC1 功能。我们有断断续续的 cholestasis 的病人能开发的调查结果表演甚至在几十年以后的进步的肝疾病并且要求常规列在后面起来。" @default.
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- W3140571837 date "2012-01-01" @default.
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- W3140571837 title "Novel A TP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis" @default.
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