RARE PROTEIN-TRUNCATING VARIANTS IN APOB ASSOCIATE WITH LOWER LOW-DENSITY LIPOPROTEIN CHOLESTEROL, LOWER TRIGLYCERIDES, AND REDUCED RISK OF CORONARY HEART DISEASE

Akihiro Nomura,Gina Peloso,Amit V. Khera,Mark Chaffin,Hong-Hee Won,Atsushi Nohara,Masa-Aki Kawashiri,Hayato Tada,Frederick Dewey,Sekar Kathiresan

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY（2019）

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摘要

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

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关键词

cholesterol,coronary heart disease,protein-truncating,low-density

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