JASReference:Ohashi K:Ishibashi S:Osuga J:Tozawa R:Harada K:Yahagi N:Shionoiri F:Iizuka Y:Tamura Y:Nagai R:Illingworth DR:Gotoda T:Yamada N:,J Lipid Res,2000,41,1199

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Title Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia
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Journal Journal of Lipid Research     
(13 pages)
Year 2000
Volume 41
Page 1199

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Ins/419/A N140fsX exon4 This page
Del/1389/A A462fsX14 exon11 This page
Mut/1783/C-T R595X exon13 This page
Mut/2218-2/A-G exon16 skip/intron15 splice failure 3'-acceptor splice site This page
Mut/2338/A-T N780Y exon16 This page


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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。

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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。