Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.

doi:10.1016/j.jhep.2017.07.004

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Article

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.

Journal of hepatology - 1 Dec 2017

Dröge Carola, Bonus Michele, Baumann Ulrich, Klindt Caroline, Lainka Elke, Kathemann Simone, Brinkert Florian, Grabhorn Enke, Pfister Eva-Doreen, Wenning Daniel, Fichtner Alexander, Gotthardt Daniel N, Weiss Karl Heinz, McKiernan Patrick, Puri Ratna Dua, Verma I C, Kluge Stefanie, Gohlke Holger, Schmitt Lutz, Kubitz Ralf, Häussinger Dieter, Keitel Verena

Abstract excerpt

BACKGROUND & AIMS: The bile salt export pump (BSEP, ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase familial intrahepatic cholestasis 1 (FIC1, ATP8B1) mediate bile formation. This study aimed to determine the contribution of mutations and common variants in the FIC1, BSEP and MDR3 genes to cholestatic disorders of differing disease onset and severity. METHODS: Coding exons with flanking...

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PMID: 28733223
DOI: 10.1016/j.jhep.2017.07.004

Genes

ABCB11
ABCB4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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