1. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003; 168:1–14.
Article
2. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science. 1986; 232:34–47.
Article
3. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003; 111:1795–1803.
Article
4. Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular bases of inherited disease. 8th ed. New York: Mc-Graw-Hill;2001.
5. Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet. 2008; 72:485–498.
Article
6. Vandrovcova J, Thomas ER, Atanur SS, Norsworthy PJ, Neuwirth C, Tan Y, et al. The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. Genet Med. 2013; 15:948–957.
Article
7. Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, Kerr SM, Biggs J, et al. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. BMC Med Genet. 2014; 15:70.
Article
8. Radovica-Spalvina I, Latkovskis G, Silamikelis I, Fridmanis D, Elbere I, Ventins K, et al. Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. BMC Med Genet. 2015; 16:86.
Article
9. Kweon SS, Shin MH, Jeong SK, Nam HS, Lee YH, Park KS, et al. Cohort profile: the Namwon study and the Dong-gu study. Int J Epidemiol. 2014; 43:558–567.
Article
10. Wu WF, Sun LY, Pan XD, Yang SW, Wang LY. Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia. PLoS One. 2014; 9:e94697.
Article
11. Thorvaldsdóttir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visual ization and exploration. Brief Bioinform. 2013; 14:178–192.
12. Yates A, Akanni W, Amode MR, Barrell D, Billis K, Carvalho-Silva D, et al. Ensembl 2016. Nucleic Acids Res. 2016; 44:D710–D716.
Article
13. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7:248–249.
Article
14. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4:1073–1081.
Article
15. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Mutation-Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010; 7:575–576.
Article
16. Huxley RR, Hawkins MH, Humphries SE, Karpe F, Neil HA. Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Risk of fatal stroke in patients with treated familial hypercholesterolemia: a prospective registry study. Stroke. 2003; 34:22–25.
Article
17. Youngblom E, Pariani M, Knowles JW. Familial hypercholesterolemia. In : Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, editors. GeneReviews®. Seattle: University of Washington;2014.
18. Raal FJ, Pilcher GJ, Panz VR, van Deventer HE, Brice BC, Blom DJ, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation. 2011; 124:2202–2207.
Article
19. Elis A, Zhou R, Stein EA. Effect of lipid-lowering treatment on natural history of heterozygous familial hypercholesterolemia in past three decades. Am J Cardiol. 2011; 108:223–226.
Article
20. Tybjaerg-Hansen A, Steffensen R, Meinertz H, Schnohr P, Nordestgaard BG. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med. 1998; 338:1577–1584.
Article
21. Frikke-Schmidt R, Arlien-Søborg P, Thorsen S, Jensen HK, Vorstrup S. LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are. Eur J Neurol. 1999; 6:691–696.
Article
22. Chiou KR, Charng MJ. Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. Gene. 2012; 498:100–106.
Article
23. Gouni-Berthold I, Berthold HK. Familial hypercholesterolemia: etiology, diagnosis and new treatment options. Curr Pharm Des. 2014; 20:6220–6229.
Article
24. Han SM, Hwang B, Park TG, Kim DI, Rhee MY, Lee BK, et al. Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. PLoS One. 2015; 10:e0126706.
Article
25. Hinchcliffe M, Le H, Fimmel A, Molloy L, Freeman L, Sullivan D, et al. Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting. Pathology. 2014; 46:60–68.
Article
26. Jiang L, Sun LY, Dai YF, Yang SW, Zhang F, Wang LY. The distribution and characteristics of LDL receptor mutations in China: A systematic review. Sci Rep. 2015; 5:17272.
Article
27. Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, et al. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Atherosclerosis. 2014; 236:54–61.
Article
28. Miyake Y, Yamamura T, Sakai N, Miyata T, Kokubo Y, Yamamoto A. Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population. Atherosclerosis. 2009; 203:153–160.
Article
29. Yao RE, Wang J, Geng J, Zheng Z, Yu T, Yu Y, et al. Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia. J Pediatr Endocrinol Metab. 2012; 25:769–773.
Article
30. Yu W, Nohara A, Higashikata T, Lu H, Inazu A, Mabuchi H. Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis. 2002; 165:335–342.
Article
31. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013; 34:3478–3490a.
Article
32. Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015; 17:444–451.
Article