JASReference:Yu W:Nohara A:Higashikata T:Lu H:Inazu A:Mabuchi H:,Atherosclerosis,2002,165,335

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Title Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population
Author(s)
 
 
 
 
 
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Journal Atherosclerosis     
(19 pages)
Year 2002
Volume 165
Page 335

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Mut/132/G-A W44X exon2 This page
LDLR Mut/137/G-A C46Y exon2 This page
LDLR Del/230/G G77AfsX53 exon3 This page
LDLR Mut/244/G-T C82F exon3 This page
LDLR Mut/288/G-T C95F exon3 This page
LDLR Mut/361/T-G C121G exon4 This page
LDLR Mut/388/T-A S130T exon4 This page
LDLR Ins/389/C S130fsX50 exon4 This page
LDLR Mut/463/T-C C155R exon4 This page
LDLR Mut/478/T-C C160R exon4 This page
LDLR Mut/550/T-C C184R exon4 This page
LDLR Mut/565/G-A V189M exon4 This page
LDLR Mut/611/G-C C204S exon4 This page
LDLR Mut/796/G-A C204S exon5 This page
LDLR Mut/797/A-G D266G exon5 This page
LDLR Mut/901/G-T D301Y exon6 This page
LDLR Mut/1048/C-T R340X exon7 This page
LDLR Ins/1061/T D354fsX4 exon8 This page
LDLR Mut/1252/G-A E418K exon9 This page
LDLR Mut/1567/G-A V523M exon10 This page
LDLR Mut/1587-1/G-A 3' splice acceptor mutation intron10 This page
LDLR Del/1871/TCA I624del exon13 This page
LDLR Mut/1925/T-C L642S exon13 This page
LDLR Mut/2026/G-A G676S exon14 This page
LDLR Del/2055/G P685fsX24 exon14 This page
LDLR Mut/2312-3/C-A 3' splice acceptor mutation intron15 This page
LDLR Ins/2416/G V806fsX11 exon17 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。