Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

doi:10.1002/hep.20285

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Article

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Hepatology (Baltimore, Md.) - 1 Jul 2004

Klomp Leo W J, Vargas Julie C, van Mil Saskia W C, Pawlikowska Ludmila, Strautnieks Sandra S, van Eijk Michiel J T, Juijn Jenneke A, Pabón-Peña Carlos, Smith Lauren B, DeYoung Joseph A, Byrne Jane A, Gombert Justijn, van der Brugge Gerda, Berger Ruud, Jankowska Irena, Pawlowska Joanna, Villa Erica, Knisely A S, Thompson Richard J, Freimer Nelson B, Houwen Roderick H J, Bull Laura N

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic cholestasis and develop liver fibrosis. BRIC patients experience intermittent attacks of cholestasis that resolve spontaneously. Mutations in ATP8B1 (previously FIC1) may result in PFIC or BRIC. We report the genomic organization...

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PMID: 15239083
DOI: 10.1002/hep.20285

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