Condition: Cholecystitis


rs121918440 in ABCB4 gene and Cholecystitis PMID 28776642 2018 Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.

PMID 9419367 1998 Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

PMID 26153658 2016 Heterozygous ABCB4 mutations in children with cholestatic liver disease.

PMID 24806754 2014 Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

PMID 17726488 2007 Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

PMID 21119540 2011 Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

PMID 26699824 2016 Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

PMID 15077010 2004 Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.

PMID 16890614 2006 Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.

PMID 12891548 2003 ABCB4 gene mutation-associated cholelithiasis in adults.

PMID 24381502 2013 Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).

PMID 11313316 2001 MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.