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ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation.
eGastroenterology
January 2024
Department of Pediatrics, The First Affiliated Hospital Medical University, Wenzhou, Zhejiang, China.
Background: Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver condition, is caused by biallelic loss-of-function mutations of the gene. This study aimed to investigate genetic variations in the drug efflux transporter (MRP2) gene in patients with DJS and to characterise the expression and mechanism of the gene variant.
Methods: Trio whole exome sequencing was performed in the family to identify the genetic causes.