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Article

Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.

Journal of hepatology - 1 Sept 2005

Noe Johannes, Kullak-Ublick Gerd A, Jochum Wolfram, Stieger Bruno, Kerb Reinhold, Haberl Michael, Müllhaupt Beat, Meier Peter J, Pauli-Magnus Christiane

Abstract excerpt

BACKGROUND/AIMS: Inherited dysfunction of the bile salt export pump BSEP (ABCB11) causes a progressive and a benign form of familial intrahepatic cholestasis, denominated as PFIC2 and BRIC2, respectively. We functionally characterized novel ABCB11 mutations encountered in two patients with a PFIC...

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Topics

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bile Acids and Salts

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Share to Cholestasis, Intrahepatic

Share to Mutagenesis, Site-Directed

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Source

Identifiers

PMID: 16039748
DOI: 10.1016/j.jhep.2005.05.020

Genes

ABCB11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16039748-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.PMID 16039748Read ↗

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