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Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia
Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disease characterised by increased low-density lipoprotein cholesterol (LDL-C) levels. The functionality of four novel variants within the LDLR 5′UTR and promoter located at c.-13A>G, c.-101T>C, c.-121T>C and c.-215A>...
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| Veröffentlicht in: | Eur J Hum Genet |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4277481/ https://ncbi.nlm.nih.gov/pubmed/25248394 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.199 |
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