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.