JASReference:Ikeda Y:Takagi A:Nakata Y:Sera Y:Hyoudou S:Hamamoto K:Nishi Y:Yamamoto A:,J Lipid Res,2001,42,1072

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Title	Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8
Author(s)	Ikeda_Y   Takagi_A   Nakata_Y   Sera_Y   Hyoudou_S   Hamamoto_K   Nishi_Y   Yamamoto_A  　  　(Click a name to see records for each author.)
Journal	Journal of Lipid Research      Other reports in this journal (13 pages)
Year	2001
Volume	42
Page	1072

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference LPL Mut/542/G-T G181V exon5 Mut/716/G-T G154V exon5 This page LPL Mut/1322+2/T-C - intron8 Mut/1496+2/T-C 5'splice_donor_mutation intron8 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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