JASReference:Gotoda T:Yamada N:Kawamura M:Kozaki K:Mori N:Ishibashi S:Shimano H:Takaku F:Yazaki Y:Furuichi Y:Murase T:,J Clin Invest,1991,88,1856

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Title Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
Author(s)
 
 
 
 
 
 
 
 
 
 
     (Click a name to see records for each author.)
Journal The Journal of Clinical Investigation     
(6 pages)
Year 1991
Volume 88
Page 1856

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/693/C-G D231E exon5 Mut/867/C-G D204E exon5 This page
Mut/809/G-A R270H exon6 Mut/983/G-A R243H exon6 This page
Del/1400/G frame_shift_after_W382 exon8 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

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。