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: Difference between revisions
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&&LDLR/Mut/2431/A-T&&K811X&&exon17&&Mut/2431/A-T&&K790X&&exon17 | &&LDLR/Mut/2431/A-T&&K811X&&exon17&&Mut/2431/A-T&&K790X&&exon17 | ||
|title=Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population | |title=Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population | ||
|doi=10.1161/ | |doi=10.1161/01.ATV.15.10.1713 | ||
|pmid=7583548 | |pmid=7583548 | ||
|comment=The E130K mutation was also reported in [[JASReference:Hobbs_HH:Brown_MS:Goldstein_JL:,Hum_Mutat,1992,1,445|Hobbs HH, Hum Mutat 1: 445-66, 1992]]. The P685L mutation was also reported in [[JASReference:Soutar_AK:Knight_BL:Patel_DD:,Proc_Natl_Acad_Sci_U_S_A,1989,86,4166|Soutar AK, PNAS 86: 4166, 1989]]. | |comment=The E130K mutation was also reported in [[JASReference:Hobbs_HH:Brown_MS:Goldstein_JL:,Hum_Mutat,1992,1,445|Hobbs HH, Hum Mutat 1: 445-66, 1992]]. The P685L mutation was also reported in [[JASReference:Soutar_AK:Knight_BL:Patel_DD:,Proc_Natl_Acad_Sci_U_S_A,1989,86,4166|Soutar AK, PNAS 86: 4166, 1989]]. | ||
}} | }} | ||
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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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How to input/edit information?
- 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。 |
- Format of the page
The format of the page title is here. The format of mutation information is here. |
