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

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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