Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome - Khabou, Boudour; Hsairi, Manel; Gargouri, Lamia; Miled, Nabil; Barbu, Véronique; Fakhfakh, Faiza (Clinica chimica acta, 2021)
Keywords: Adenosine Triphosphatases - genetics; Cholestasis, Intrahepatic; Complex genotype; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Infantile DJS; Jaundice, Chronic Idiopathic - diagnosis; Jaundice, Chronic Idiopathic - genetics; Multidrug Resistance-Associated Protein 2; Multidrug Resistance-Associated Proteins - genetics; Mutation; NGS; Novel mutation; Phenotype; Young Adult; ALAT; FXR; MRP1; MRP2; Infantile DJS; PT; ALP; Complex genotype; UDCA; PFIC3; DJS; TB; Novel mutation; FIC1; NBD; MAF; GGT; HGMD; SNPs; NGS; ASAT; MDR3; WT; DB