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

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

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 mutatio...

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Bibliographic Details
Main Authors: Dröge, Carola, Schaal, Heiner, Engelmann, Guido, Wenning, Daniel, Häussinger, Dieter, Kubitz, Ralf
Format: Online
Language:English
Published: Nature Publishing Group 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845019/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845019/

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