JASReference:Yamakawa-Kobayashi K:Kobayashi T:Saku K:Arakawa K:Hamaguchi H:,Hum Genet,1993,92,331: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&&LDLR/Ins/1247/5&&R416fsX12&&exon9&&Ins/1247/5&&R395fsX12&&exon9 | |||
&&LDLR/Del/1655/T&&I552TfsX15&&exon11&&Del/1655/T&&I531TfsX15&&exon11 | &&LDLR/Del/1655/T&&I552TfsX15&&exon11&&Del/1655/T&&I531TfsX15&&exon11 | ||
|title=Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia | |title=Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia |
Latest revision as of 04:55, 31 May 2013
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Title | Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia |
Author(s) | (Click a name to see records for each author.) |
Journal | Human Genetics (12 pages) |
Year | 1993 |
Volume | 92 |
Page | 331 |
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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