JASReference:Hirota R:Kubo N:Hikiji K:Nakajima K:Hata Y:Sakurabayashi I:,Ann Clin Biochem,2002,39,526

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Title Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene
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Journal Annals of Clinical Biochemistry     
(0 pages)
Year 2002
Volume 39
Page 526

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Ins/327/C S110LfsX20 exon4 Ins/327/C S89LfsX20 exon4 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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