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Blanco-Vaca F, Martin-Campos JM, Beteta-Vicente \u00c1, et al. Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: evidence supporting polygenicity in mutation-negative patients. Atherosclerosis 283: 52-60, 2019."},{"key":"2","unstructured":"2. Peloso GM, Nomura A, Khera AV, et al. Rare protein-truncating variants in APOB, lower low-density lipoprotein cholesterol, and protection against coronary heart disease. Circ Genom Precis Med 12: e002376, 2019."},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Di Filippo M, Moulin P, Roy P, et al. Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. J Hepatol 61: 891-902, 2014.","DOI":"10.1016\/j.jhep.2014.05.023"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Kawashiri MA, Tada H, Hashimoto M, et al. 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Arterioscler Thromb Vasc Biol 19: 1950-1955, 1999.","DOI":"10.1161\/01.ATV.19.8.1950"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Katsuda S, Kawashiri MA, Inazu A, et al. Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. Clin Chim Acta 399: 64-68, 2009.","DOI":"10.1016\/j.cca.2008.09.021"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Zhao Z, Tuakli-Wosornu Y, Lagace TA, et al. Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet 79: 514-523, 2006.","DOI":"10.1086\/507488"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Cariou B, Ouguerram K, Za\u00efr Y, et al. PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol 29: 2191-2197, 2009.","DOI":"10.1161\/ATVBAHA.109.194191"},{"key":"14","unstructured":"14. Hori M, Ishihara M, Yuasa Y, et al. Removal of plasma mature and furin-cleaved proprotein convertase subtilisin\/kexin 9 by low-density lipoprotein-apheresis in familial hypercholesterolemia: development and application of a new assay for PCSK9. J Clin Endocrinol Metab 100: E41-E49, 2015."},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Tada H, Kawashiri MA, Nomura A, et al. Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease. J Clin Lipidol 12: 1436-1444, 2018.","DOI":"10.1016\/j.jacl.2018.08.006"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354: 1264-1272, 2006.","DOI":"10.1056\/NEJMoa054013"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Kathiresan S; Myocardial Infarction Genetics Consortium. A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction. N Engl J Med 358: 2299-2300, 2008.","DOI":"10.1056\/NEJMc0707445"},{"key":"18","unstructured":"18. Health Japan 21 (the second term) Analysis and Assessments Projects. National Institute of Health and Nutrition [Internet]. [cited 2019 Aug 25]. Available from: http:\/\/www.nibiohn.go.jp\/eiken\/kenkounippon21\/ (in Japanese)."},{"key":"19","unstructured":"19. Benjannet S, Rhainds D, Hamelin J, Nassoury N, Seidah NG. The proprotein convertase (PC) PCSK9 is inactivated by furin and\/or PC5\/6A: functional consequences of natural mutations and post-translational modifications. J Biol Chem 281: 30561-30572, 2006."},{"key":"20","unstructured":"20. Kent ST, Rosenson RS, Avery CL, et al. PCSK9 Loss-of-function variants, low-density lipoprotein cholesterol, and risk of coronary heart disease and stroke: data from 9 studies of blacks and whites. 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