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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2010
主題:
Article
オンライン･アクセス: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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