JASReference:Ikeda Y:Goji K:Takagi A:,Clin Sci,2000,99,569

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Title A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia
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Journal Clinical Science (London)     
(0 pages)
Year 2000
Volume 99
Page 569

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/394/G-A G132R exon3 Mut/568/G-A G105R exon3 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。