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

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。