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Updated: May 28, 2025

Methods to Discover Alternative Promoter Usage and Transcriptional Regulation of Murine Bcrp1
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Methods to Discover Alternative Promoter Usage and Transcriptional Regulation of Murine Bcrp1

Published on: May 27, 2016

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ABCC2 p.R393W 变种通过向MRP2 来降解蛋白质酶体,从而导致杜宾-约翰逊综合征

Rong-Yue Sun1, Yi-Ming Chen2, Mian-Mian Zhu1

  • 1Department of Pediatrics, The First Affiliated Hospital Medical University, Wenzhou, Zhejiang, China.

eGastroenterology
|February 13, 2025
PubMed
概括

在ABCC2 (MRP2) 基因的遗传变异导致杜宾-约翰逊综合征 (DJS). 这项研究确定了两个ABCC2变体,p.R393W和p.L1211P,导致MRP2功能障碍和DJS发展.

关键词:
消化系统疾病 消化系统疾病基因 基因 基因 基因遗传特征 遗传特征人类遗传学 人类遗传学肝脏疾病 肝脏疾病

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