Condition: Cholestasis, progressive familial intrahepatic 1


rs111033609 in ATP8B1 gene and Cholestasis, progressive familial intrahepatic 1 PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 20038848 2010 Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with 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 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

PMID 11093741 2000 A missense mutation in FIC1 is associated with greenland familial cholestasis.

rs1438249656 in ATP8B1;LOC100505549 gene and Cholestasis, progressive familial intrahepatic 1 PMID 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with 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 20038848 2010 Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 11093741 2000 A missense mutation in FIC1 is associated with greenland familial cholestasis.

rs121909098 in LOC100505549;ATP8B1 gene and Cholestasis, progressive familial intrahepatic 1 PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

PMID 11093741 2000 A missense mutation in FIC1 is associated with greenland familial cholestasis.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 20038848 2010 Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

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 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

PMID 9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.

PMID 19918981 2010 Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

PMID 26879107 2016 Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.