Condition: Progressive intrahepatic cholestasis (disorder)


rs11568372 in ABCB11 gene and Progressive intrahepatic cholestasis (disorder) PMID 17855769 2007 Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.

PMID 18395098 2008 Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

PMID 9806540 1998 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

rs113090017 in NR1H4 gene and Progressive intrahepatic cholestasis (disorder) PMID 26888176 2016 Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

PMID 21633855 2012 A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.