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Article

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

27 Mar 2019

Abstract excerpt

Background & Aims 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. Since steatosis is a common feature in Wilson's disease (WD), we aimed to assess whether the...

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PMID: 32039348
DOI: 10.1016/j.jhepr.2019.02.007

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