JASReference:Yamakawa-Kobayashi K:Kobayashi T:Yanagi H:Shimakura Y:Satoh J:Hamaguchi H:,Hum Genet,1994,93,625

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Title A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region
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Journal Human Genetics     
(12 pages)
Year 1994
Volume 93
Page 625

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR DelIns/1115-1123/AGGGTGGCT-CACTGA E372-Y375delinsALN exon8 DelIns/1115-1123/CACTGA  E351-Y354delinsALN exon8 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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