JASReference:Yamakawa-Kobayashi K:Kobayashi T:Saku K:Arakawa K:Hamaguchi H:,Hum Genet,1993,92,331

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Title Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia
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Journal Human Genetics     
(12 pages)
Year 1993
Volume 92
Page 331

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Ins/1247/5 R416fsX12 exon9 Ins/1247/5 R395fsX12 exon9 This page
LDLR Del/1655/T I552TfsX15 exon11 Del/1655/T I531TfsX15 exon11 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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ページタイトルの書式(書き方)はここにあります。遺伝子変異情報の書式(書き方)はここにあります。