JASReference:Inazu A:Jiang XC:Haraki T:Yagi K:Kamon N:Koizumi J:Mabuchi H:Takeda R:Takata K:Moriyama Y:Doi M:Tall AR:,J Clin Invest,1994,94,1872

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Title Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol
Author(s)
 
 
 
 
 
 
 
 
 
 
 
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Journal The Journal of Clinical Investigation     
(6 pages)
Year 1994
Volume 94
Page 1872

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Ins/1321+3/T 5'splice_donor_mutation intron14 Ins/1451+3/T 5'splice_donor_mutation intron14 This page


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.

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。