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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Detalles Bibliográficos
Autores principales: Dröge, Carola, Schaal, Heiner, Engelmann, Guido, Wenning, Daniel, Häussinger, Dieter, Kubitz, Ralf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845019/
https://www.ncbi.nlm.nih.gov/pubmed/27114171
http://dx.doi.org/10.1038/srep24827

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845019/
https://www.ncbi.nlm.nih.gov/pubmed/27114171
http://dx.doi.org/10.1038/srep24827

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