JASReference:Noguchi T:Katsuda S:Kawashiri MA:Tada H:Nohara A:Inazu A:Yamagishi M:Kobayashi J:Mabuchi H:,Atherosclerosis,2010,210,166: Difference between revisions
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{{JASReference | {{JASReference | ||
|mutation= | |mutation= | ||
&& | &&PCSK9/Dup/61-63/CTG&&L21dup&&exon1 | ||
&&PCSK9/ | &&PCSK9/Mut94/G-A&&E32K&&exon1 | ||
&&PCSK9/Mut/158/C-T&&A53V&&exon1 | &&PCSK9/Mut/158/C-T&&A53V&&exon1 | ||
&&PCSK9/Mut/787/G-A&&G263S&&exon5 | |||
&&PCSK9/Mut/1420/A-G&&I474V&&exon9 | &&PCSK9/Mut/1420/A-G&&I474V&&exon9 | ||
&&PCSK9/Mut/ | &&PCSK9/Mut2004/C-A&&S668R&&exon12 | ||
&&PCSK9/Mut/2009/A-G&&E670G&&exon12 | |||
|title=The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation | |title=The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation | ||
|doi=10.1016/j.atherosclerosis.2009.11.018 | |doi=10.1016/j.atherosclerosis.2009.11.018 | ||
|pmid=20006333 | |pmid=20006333 | ||
}} | }} |
Latest revision as of 05:57, 31 May 2013
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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 |
Author(s) | (Click a name to see records for each author.) |
Journal | Atherosclerosis (19 pages) |
Year | 2010 |
Volume | 210 |
Page | 166 |
Genetic mutations in this article
Reported Mutations (notation help) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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。 |
- Format of the page
The format of the page title is here. The format of mutation information is here. |