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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia
Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Thirteen French families w...
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| Publicat a: | Sci Rep |
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| Autors principals: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5792649/ https://ncbi.nlm.nih.gov/pubmed/29386597 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-20281-9 |
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