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J-GLOBAL ID:201602230626473284   Reference number:16A1226779

Familial Hypercholesterolemia in Asian Populations

アジア人集団における家族性高コレステロール血症
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Volume: 23  Issue:Page: 539-549(J-STAGE)  Publication year: 2016 
JST Material Number: U0153A  ISSN: 1880-3873  Document type: Article
Article type: 文献レビュー  Country of issue: Japan (JPN)  Language: ENGLISH (EN)
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Metabolic diseases,nutritional diseases in general.  ,  Congenital diseases,deformities in general. 
Reference (67):
  • 1) Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ: Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. J Clin Lipidol, 2014; 8: 148-172
  • 2) Brown MS, Goldstein JL: A receptor-mediated pathway for cholesterol homeostasis. Science, 1986; 232: 34-47
  • 3) Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM: Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A, 1987; 84: 6919-6923
  • 4) Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger 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: 154-156
  • 5) 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 hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science, 2001; 292: 1394-1398
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