JASReference:Kajinami K:Fujiota HJ:Koizumi J:Mabuchi H:Takeda R:Ohta M:,Circulation,1989,80,278

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Title Genetically-determined mild type of familial hypercholesterolemia including normocholesterolemic patients: FH-Tonami-2
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Journal Circulation     
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Year 1989
Volume 80
Page 278

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Del/In1-In3/10k - exon2-3 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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