JASReference:Maruyama T:Miyake Y:Tajima S:Harada-Shiba M:Yamamura T:Tsushima M:Kishino B:Horiguchi Y:Funahashi T:Matsuzawa Y:Yamamoto A:,Arterioscler Thromb Vasc Biol,1995,15,1713
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Title | Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population |
Author(s) | (Click a name to see records for each author.) |
Journal | Arteriosclerosis Thrombosis and Vascular Biology (9 pages) |
Year | 1995 |
Volume | 15 |
Page | 1713 |
The E130K mutation was also reported in Hobbs HH, Hum Mutat 1: 445-66, 1992. The P685L mutation was also reported in Soutar AK, PNAS 86: 4166, 1989.
Genetic mutations in this article
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- Account Information
This database is maintained by the subcommittee for Lipid Metabolism in Japan Atherosclerosis Society. If you volunteer to contribute, please contact arita AT k.u-tokyo.ac.jp. |
このデータベースは日本動脈硬化学会 脂質代謝部会が作成しています。入力等に協力していただける方は有田 arita AT k.u-tokyo.ac.jp までご連絡下さい。 |
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The format of the page title is here. The format of mutation information is here. |