JASReference:Ikeda Y:Takagi A:Nakata Y:Sera Y:Hyoudou S:Hamamoto K:Nishi Y:Yamamoto A:,J Lipid Res,2001,42,1072: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&&LPL/Mut/542/G-T&&G181V&&exon5 | &&LPL/Mut/542/G-T&&G181V&&exon5&&Mut/716/G-T&&G154V&&exon5 | ||
&& | &&LPL/Mut/1322+2/T-C&&-&&intron8&&Mut/1496+2/T-C&&5'splice_donor_mutation&&intron8 | ||
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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 | |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 | ||
|doi= | |doi= | ||
|pmid=11441134 | |pmid=11441134 | ||
}} | }} |
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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) | (Click a name to see records for each author.) |
Journal | Journal of Lipid Research (13 pages) |
Year | 2001 |
Volume | 42 |
Page | 1072 |
Genetic mutations in this article
Reported Mutations (notation help) | ||||||||||||||||||||||||
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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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