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
Author(s)
 
 
 
 
 
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Journal Human Genetics     
(12 pages)
Year 1994
Volume 93
Page 625

Genetic mutations in this article

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


How to input/edit information?

Account Information

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。

Format of the page

The format of the page title is here. The format of mutation information is here.

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。