JASReference:Noguchi T:Katsuda S:Kawashiri MA:Tada H:Nohara A:Inazu A:Yamagishi M:Kobayashi J:Mabuchi H:,Atherosclerosis,2010,210,166

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Title The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation
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Journal Atherosclerosis     
(19 pages)
Year 2010
Volume 210
Page 166

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Dup/61-63/CTG L21dup exon1 This page
Mut94/G-A E32K exon1 This page
Mut/158/C-T A53V exon1 This page
Mut/787/G-A G263S exon5 This page
Mut/1420/A-G I474V exon9 This page
Mut2004/C-A S668R exon12 This page
Mut/2009/A-G E670G 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。

Format of the page

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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。