| [1] Lehrman MA, Schneider WJ, Südhof TC, Brown MS, Goldstein JL, Russell DW. Mutation in LDL receptor: Alu- Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science, 1985, 227(4683): 140–146.
[2] 唐新, 林婴, 刘兵, 马誓, 杨洋, 杨正林. 家族性高甘油三酯血症家系的候选基因位点连锁分析. 中华医学遗传学杂志, 2009, 26(5): 499–503.
[3] Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH. Autosomal recessive hypercholes-terolemia caused by mutations in a putative LDL receptor adaptor protein. Science, 2001, 292(5520): 1394–8.
[4] Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet, 2003, 34(2): 154–156.
[5] Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science, 1986, 232(4746): 34–47.
[6] Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipopro-tein B mutation and familial defective apolipoprotein B-100. Proc. Proc Natl Acad Sci USA, 1989, 86(2): 587– 591.
[7] Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Se-quence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med, 2006, 354(12): 1264–1272.
[8] Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet, 2007, 80(4): 727–739.
[9] Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Da-tabase: 2008 update. Genome Med, 2009, 1(1): 13.
[10] Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet, 2010, 42(1): 30–35.
[11] Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Ga-briel SB, Yue P, Kathiresan S. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipide-mia. N Engl J Med, 2010, 363(23): 2220–2227.
[12] Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao ZM. A novel nontrun-cating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem, 2003, 278: 13442– 13452.
[13] Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL, Grundy SM, Friedl W, Davignon J, McCarthy BJ. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholes-terolemia. J Lipid Res, 1990, 31: 1337–1349.
[14] Hobbs HH, Leitersdorf E, Leffert CC, Cryer DR, Brown MS, Goldstein JL. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defec-tive low density lipoprotein receptors. J Clin Invest, 1989, 84(2): 656–664.
[15] Johansen CT, Wang J, Lanktree MB, Cao HN, McIntyre AD, Ban MR, Martins RA, Kennedy BA, Hassell RG, Visser ME, Schwartz SM, Voight BF, Elosua R, Salomaa V, O'Donnell CJ, Dallinga-Thie GM, Anand SS, Yusuf S, Huff MW, Kathiresan S, Hegele RA. Excess of rare vari-ants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet, 2010, 42(8): 684–687.
[16] Teslovich TM, Musunuru K, Smith AV, Edmondson AC. Biological, clinical and population relevance of 95 loci for blood lipids. Nature, 2010, 466(7307): 707&n |
