JASReference:Miyake Y:Kimura R:Kokubo Y:Okayama A:Tomoike H:Yamamura T:Miyata T:,Atherosclerosis,2008,196,29

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Title Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population
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Journal Atherosclerosis     
(19 pages)
Year 2008
Volume 196
Page 29

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/-253/G-A - exon1 This page
Mut/94/G-A E32K exon1 This page
Mut/161/A-C E54A exon1 This page
Mut/202/G-A A68T exon1 This page
Mut/277/C-T R93C exon2 This page
Mut/310/C-T R104C exon2 This page
Mut/420/C-T V140V exon3 This page
Mut/655/C-G Q219E exon4 This page
Mut/716/C-A A239D exon5 This page
Mut/787/G-A G263S exon5 This page
Mut/1227/C-T A409A exon8 This page
Mut/1284/G-A W428X exon8 This page
Mut/1355/G-A G452D exon9 This page
Mut/1540/G-A A514T exon10 This page
Mut/1863+6/G-A - Intron11 This page
Mut/1870/G-A V624M exon12 This page
Mut/1878/C-T C626C exon12 This page
Mut/1930/G-A V644I exon12 This page
Mut/1947/C-T A649A exon12 This page
Mut/2004/C-A S668R exon12 This page


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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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ページタイトルの書式(書き方)はここにあります。遺伝子変異情報の書式(書き方)はここにあります。