HSD17B13 truncated variant is associated with a mild hepatic phenotype in Wilson’s Disease

HSD17B13 encodes hydroxysteroid 17-β dehydrogenase 13, a novel liver lipid-droplet associated protein that is involved in the regulation of lipid biosynthetic processes. A protein-truncating HSD17B13 variant (rs72613567) was shown to protect individuals from alcoholic and non-alcoholic liver disease...

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Udgivet i:JHEP Rep
Main Authors: Ferenci, Peter, Pfeiffenberger, Jan, Stättermayer, Albert Friedrich, Stauber, Rudolf E., Willheim, Claudia, Weiss, Karl H., Munda-Steindl, Petra, Trauner, Michael, Schilsky, Michael, Zoller, Heinz
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
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Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001574/
https://ncbi.nlm.nih.gov/pubmed/32039348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jhepr.2019.02.007
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