Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia

We sequenced all protein-coding regions of the genome (the “exome”) in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compou...

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Hauptverfasser: Musunuru, Kiran, Pirruccello, James P., Do, Ron, Peloso, Gina M., Guiducci, Candace, Sougnez, Carrie, Garimella, Kiran V., Fisher, Sheila, Abreu, Justin, Barry, Andrew J., Fennell, Tim, Banks, Eric, Ambrogio, Lauren, Cibulskis, Kristian, Kernytsky, Andrew, Gonzalez, Elena, Rudzicz, Nicholas, Engert, James C., DePristo, Mark A., Daly, Mark J., Cohen, Jonathan C., Hobbs, Helen H., Altshuler, David, Schonfeld, Gustav, Gabriel, Stacey B., Yue, Pin, Kathiresan, Sekar
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3008575/
https://ncbi.nlm.nih.gov/pubmed/20942659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1002926
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