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Article

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

Gastroenterology - 1 Jul 2008

Ziol Marianne, Barbu Véronique, Rosmorduc Olivier, Frassati-Biaggi Annonciade, Barget Nathalie, Hermelin Brigitte, Scheffer Georges L, Bennouna Selma, Trinchet Jean-Claude, Beaugrand Michel, Ganne-Carrié Nathalie

Abstract excerpt

BACKGROUND & AIMS: Adenosine triphosphate-binding cassette subfamily B, member 4 (ABCB4) mutations have not been investigated in patients with unexplained cholestasis. We aimed to investigate ABCB4 mutations in adult patients with unexplained anicteric cholestasis and to describe liver injury associated with ABCB4 mutations. METHODS: Between February 2004 and March 2007, all adults with unexplained cholestasis...

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Share to ATP Binding Cassette Transporter, Subfamily B
Share to Bile Ducts, Intrahepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cholestasis, Intrahepatic

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Source

Identifiers

PMID: 18482588
DOI: 10.1053/j.gastro.2008.03.044

Genes

ABCB4

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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