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Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

作者信息

Pacifico L, Carducci C, Poggiogalle E, Caravona F, Antonozzi I, Chiesa C, Maggiore G

出版信息

Clin Genet. 2010 Dec;78(6):598-600. doi: 10.1111/j.1399-0004.2010.01497.x.

DOI:10.1111/j.1399-0004.2010.01497.x
PMID:21044052
Abstract
摘要

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Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.ABCC2 基因对 Dubin-Johnson 综合征和遗传性胆汁淤积性疾病的遗传贡献。
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Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.ABC转运蛋白编码基因MRP2/cMOAT/ABCC2中的纯合突变Arg768Trp在一名白种人患者中导致了杜宾-约翰逊综合征。
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Front Pediatr. 2021 Nov 10;9:741835. doi: 10.3389/fped.2021.741835. eCollection 2021.
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World J Clin Cases. 2019 Oct 26;7(20):3303-3309. doi: 10.12998/wjcc.v7.i20.3303.
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