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
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
[Clinical phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 3 caused by novel ABCB4 gene mutation].
Ye XL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E et al.
Jhep Reports : Innovation in Hepatology, 2023
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Structure of the human lipid exporter ABCB4 in a lipid environment.
Olsen JA et al.
Nature Structural & Molecular Biology, 2020
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Schatz SB et al.
Hepatology Communications, 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
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2016
MDR3 mutation analysis: A step closer to precision medicine.
Bezerra JA
Hepatology (baltimore, Md.), 2016
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D et al.
European Journal of Human Genetics : Ejhg, 2007