JASReference:Takagi A:Ikeda Y:Tsutsumi Z:Shoji T:Yamamoto A:,J Clin Invest,1992,89,581

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Title Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript
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Journal The Journal of Clinical Investigation     
(6 pages)
Year 1992
Volume 89
Page 581

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Del/742/G A248fsX4 exon5 Del/742/G A221fsX4 exon5 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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