Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Nayagam JS et al.
Alimentary Pharmacology & Therapeutics, 2020
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G et al.
Journal of Gastroenterology, 2018
BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.
Pauli-Magnus C et al.
Hepatology (baltimore, Md.), 2004
Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.
Pauli-Magnus C et al.
Pharmacogenetics, 2004
Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
Vitale G et al.
Annals of Hepatology, 0
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