Condition: Cholestasis, benign recurrent intrahepatic 1
rs111033609 in
ATP8B1 gene and
Cholestasis, benign recurrent intrahepatic 1
PMID 19731236 2009 Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
PMID 9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
rs121909098 in
LOC100505549;ATP8B1 gene and
Cholestasis, benign recurrent intrahepatic 1
PMID 9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
PMID 19731236 2009 Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.