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
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
Andress EJ et al.
Hepatology (baltimore, Md.), 2014
Evidence for modulatory sites at the lipid-protein interface of the human multidrug transporter P-glycoprotein.
Mandal D et al.
Biochemistry, 2012
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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