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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
Konular:
Article
Online Erişim: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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