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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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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | 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 |
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