Associated Papers
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf
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
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Fathy M et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2016
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Park HJ et al.
Scientific Reports, 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
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