JASReference:Takagi A:Ikeda Y:Tachi K:Shinozuka T:Yamamoto A:,Clin Chim Acta,1999,285,143

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Title Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia, the G188E mutation was newly identified in Japanese
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Journal Clinica Chimica Acta     
(3 pages)
Year 1999
Volume 285
Page 143

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/1227/G-A W409X exon8 Mut/1227/G-A W382X exon8 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。

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。