Associated Papers
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Sharabati I et al.
Annals of Medicine and Surgery (2012), 2025
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.
Khabou B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Gordo-Gilart R et al.
Gut, 2015
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
ABCB4: Insights from pathobiology into therapy.
Falguières T et al.
Clinics and Research in Hepatology and Gastroenterology, 2014
Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Gautherot J et al.
Hepatology (baltimore, Md.), 2014
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
Degiorgio D et al.
European Journal of Human Genetics : Ejhg, 2014
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