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Article

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.

Scientific reports - 26 Apr 2016

Dröge Carola, Schaal Heiner, Engelmann Guido, Wenning Daniel, Häussinger Dieter, Kubitz Ralf

Abstract excerpt

The bile salt export pump BSEP mediates bile formation. Over 150 BSEP mutations are associated with progressive familial intrahepatic cholestasis type 2 (PFIC-2), with few characterised specifically. We examined liver tissues from two PFIC-2 patients compound heterozygous for the splice-site mutation c.150 + 3A > C and either c.2783_2787dup5 resulting in a frameshift with a premature termination codon (child 1)...

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
Share to Cholestasis, Intrahepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Frameshift Mutation

Share to gamma-Glutamyltransferase

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Source

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Identifiers

PMID: 27114171
DOI: 10.1038/srep24827
PMCID: PMC4845019

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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