JASReference:Maruyama T:Miyake Y:Yamamura T:Tajima S:Funahashi T:Matsuzawa Y:Yamamoto A:,Hum Mutat,1998,11,480

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Title A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online
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Journal Human Mutation     
(2 pages)
Year 1998
Volume 11
Page 480

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Mut/68-1/G-C 3'splice_acceptor_mutation exon1 This page


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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。