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Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

BACKGROUND: Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (low-density lipoprotein) and triglyceride-rich lipoprotein particles. Whether heterozygous APOB defici...

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Detalhes bibliográficos
Publicado no:Circ Cardiovasc Genet
Main Authors: Peloso, Gina M., Nomura, Akihiro, Khera, Amit V., Chaffin, Mark, Won, Hong-Hee, Ardissino, Diego, Danesh, John, Schunkert, Heribert, Wilson, James G., Samani, Nilesh, Erdmann, Jeanette, McPherson, Ruth, Watkins, Hugh, Saleheen, Danish, McCarthy, Shane, Teslovich, Tanya M., Leader, Joseph B., Lester Kirchner, H., Marrugat, Jaume, Nohara, Atsushi, Kawashiri, Masa-aki, Tada, Hayato, Dewey, Frederick E., Carey, David J., Baras, Aris, Kathiresan, Sekar
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7044908/
https://ncbi.nlm.nih.gov/pubmed/30939045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.118.002376
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