ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation

Background Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver condition, is caused by biallelic loss-of-function mutations of the ABCC2 gene. This study aimed to investigate genetic variations in the drug efflux transporter ABCC2 (MRP2) gene in patients with DJS and to characterise the e...

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Main Authors: Dan Wang, Yi-Ming Chen, Luca Valenti, Ming-Hua Zheng, Ting Zhu, Rong-Yue Sun, Mian-Mian Zhu, Ji-an Sun, Hong-Wei Wang, Chen-Yu Wu, Yu-Jing Gong, Chao-Sheng Lu, Luisa Ronzoni
Format: Article
Language:English
Published: BMJ Publishing Group 2024-02-01
Series:eGastroenterology
Online Access:https://egastroenterology.bmj.com/content/2/1/e100039.full
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