JASReference:Hattori H:Hirayama T:Nobe Y:Nagano M:Kujiraoka T:Egashira T:Ishii J:Tsuji M:Emi M:,J Hum Genet,2002,47,80

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Title Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan
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Journal Journal of Human Genetics     
(8 pages)
Year 2002
Volume 47
Page 80

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Del/578/7 D193fsX11 exon4 Del/578/7 D172fsX11 exon4 This page
LDLR Ins/682/14 E228fsX42 exon4 Ins/682/14 E207fsX42 exon4 This page
LDLR Del/943/49 N315fsX39 exon7 Del/943/49 N294fsX39 exon7 This page
LDLR Mut/1072/T-C C358R exon8 Mut/1072/T-C C337R exon8 This page
LDLR Ins/1687/C N564QfsX16 exon11 Ins/1687/C N543QfsX16 exon11 This page
LDLR Mut/1705+1/G-C 5'splice_donor_mutation intron11 This page
LDLR Mut/1705+1/G-T 5'splice_donor_mutation intron11 This page
LDLR Mut/1731/G-T W577C exon12 Mut/1731/G-T W556C exon12 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。