JASReference:Varret M:Rabes JP:Thiart R:Kotze MJ:Baron H:Cenarro A:Descamps O:Ebhardt M:Hondelijn JC:Kostner GM:Miyake Y:Pocovi M:Schmidt H:Schuster H:Stuhrmann M:Yamamura T:Junien C:Beroud C:Boileau C:,Nucleic Acids Res,1998,26,248

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Title LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis
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Journal Nucleic Acids Research     
(0 pages)
Year 1998
Volume 26
Page 248

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Mut/139/G-A D47N exon2 Mut/139/G-A D26N exon2 This page
LDLR Mut/344/G-A R115H exon4 Mut/344/G-A R94H exon4 This page
LDLR Mut/1012/T-C C338R exon7 Mut/1012/T-C C317R exon7 This page
LDLR Mut/1066/G-C D356H exon8 Mut/1066/G-C D335H exon8 This page
LDLR Mut/1207/T-C F403L exon9 Mut/1207/T-C F382L exon9 This page
LDLR Mut/1285/G-A V429M exon9 Mut/1285/G-A V408M exon9 This page
LDLR Mut/1784/G-A R595Q exon12 Mut/1784/G-A R574Q exon12 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。