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
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
36687469 (PubMed )
Supplement: mmc1.pdf
Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
Kubitz R et al.
Clinical Reviews in Allergy & Immunology, 2015
Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
Grotra R et al.
Journal of Clinical and Experimental Hepatology, 0
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