Chargement en cours...

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Dröge, Carola, Schaal, Heiner, Engelmann, Guido, Wenning, Daniel, Häussinger, Dieter, Kubitz, Ralf
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4845019/
https://ncbi.nlm.nih.gov/pubmed/27114171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep24827
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!