背景:体细胞长散布元件-1（LINE-1）逆转录转座是一种基因重排过程,与基因干扰和肿瘤发生相关。我们之前的研究表明,LINE-1逆转录转座......

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Objective: To examine whether hypothyroidism is an extrahepatic feature of ATP8B1 deficiency.Study design: 47 children w......

进行性家族性肝内胆汁淤积症(PFIC)是一组表现在新生儿时期或者1岁内发病,以严重肝内胆汁淤积及严重的皮肤瘙痒为主要特征,在儿童......

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Familial intrahepatic cholestasis(FIC) comprises a group of rare cholestatic liver diseases associated with canalicular ......

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<正>进行性家族性肝内胆汁淤积症(progressive familial intrahepatic cholestasis,PFIC)是一组常染色体隐性遗传病,以肝内胆汁淤......

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目的报告1例18q21杂合缺失致ATP8B1缺陷病（婴儿肝内胆汁淤积症）合并皮特-霍普金斯综合征（PHS）。方法总结患儿的临床特征、染色体芯片和......