Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Severe Hypercholesterolemia

BACKGROUND: About 7% of US adults have severe hypercholesterolemia (untreated LDL cholesterol ≥190 mg/dl). Such high LDL levels may be due to familial hypercholesterolemia (FH), a condition caused by a single mutation in any of three genes. Lifelong elevations in LDL cholesterol in FH mutation carri...

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Vydáno v:J Am Coll Cardiol
Hlavní autoři: Khera, Amit V., Won, Hong-Hee, Peloso, Gina M., Lawson, Kim S., Bartz, Traci M., Deng, Xuan, van Leeuwen, Elisabeth M., Natarajan, Pradeep, Emdin, Connor A., Bick, Alexander G., Morrison, Alanna C., Brody, Jennifer A., Gupta, Namrata, Nomura, Akihiro, Kessler, Thorsten, Duga, Stefano, Bis, Joshua C., van Duijn, Cornelia M., Cupples, L. Adrienne, Psaty, Bruce, Rader, Daniel J., Danesh, John, Schunkert, Heribert, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Lander, Eric, Wilson, James G., Correa, Adolfo, Boerwinkle, Eric, Merlini, Piera Angelica, Ardissino, Diego, Saleheen, Danish, Gabriel, Stacey, Kathiresan, Sekar
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5405769/
https://ncbi.nlm.nih.gov/pubmed/27050191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacc.2016.03.520
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