Mutations in TJP2 cause progressive cholestatic liver disease

The elucidation of genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Protein-truncating mutations in the tight junction protein 2 gene (TJP2) are shown to cause failure of protein localisation, with disruption of tight-junction...

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Hlavní autoři: Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E., Parry, David A., Logan, Clare V., Newbury, Lucy J., Kamath, Binita M., Ling, Simon, Grammatikopoulos, Tassos, Wagner, Bart E., Magee, John C., Sokol, Ronald J., Mieli-Vergani, Giorgina, Smith, Joshua D., Johnson, Colin A., McClean, Patricia, Simpson, Michael A., Knisely, A.S., Bull, Laura N., Thompson, Richard J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4061468/
https://ncbi.nlm.nih.gov/pubmed/24614073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2918
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