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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001574/ https://www.ncbi.nlm.nih.gov/pubmed/32039348 http://dx.doi.org/10.1016/j.jhepr.2019.02.007 |