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)	Maruyama_T   Miyake_Y   Tajima_S   Harada-Shiba_M   Yamamura_T   Tsushima_M   Kishino_B   Horiguchi_Y   Funahashi_T   Matsuzawa_Y   Yamamoto_A  　  　(Click a name to see records for each author.)
Journal	Arteriosclerosis Thrombosis and Vascular Biology      Other reports in this journal (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

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference LDLR Mut/418/G-A E130K exon4 Mut/418/G-A E119K exon4 This page LDLR Mut/1845+2/T-C 5'splice donor mutation Mut/1845+2/T-C 5'splice donor mutation This page LDLR Mut/2054/C-T P685L exon14 Mut/2054/C-T P664L exon14 This page LDLR Mut/2431/A-T K811X exon17 Mut/2431/A-T K790X exon17 This page

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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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