JASReference:Yu W:Nohara A:Higashikata T:Lu H:Inazu A:Mabuchi H:,Atherosclerosis,2002,165,335: Difference between revisions
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{{JASReference | {{JASReference | ||
|mutation= | |mutation= | ||
&&LDLR/Mut/132/G-A&&W44X&&exon2 | &&LDLR/Mut/132/G-A&&W44X&&exon2&&Mut/132/G-A&&W23X&&exon2 | ||
&&LDLR/Mut/137/G-A&&C46Y&&exon2 | &&LDLR/Mut/137/G-A&&C46Y&&exon2&&Mut/137/G-A&&C25Y&&exon2 | ||
&&LDLR/Del/230/G&&G77AfsX53&&exon3 | &&LDLR/Del/230/G&&G77AfsX53&&exon3&&Del/230/G&&G56fsX53&&exon3 | ||
&&LDLR/Mut/244/G-T&&C82F&&exon3 | &&LDLR/Mut/244/G-T&&C82F&&exon3&&Mut/244/G-T&&C61F&&exon3 | ||
&&LDLR/Mut/288/G-T&&C95F&&exon3 | &&LDLR/Mut/288/G-T&&C95F&&exon3&&Mut/288/G-T&&C74F&&exon3 | ||
&&LDLR/Mut/361/T-G&&C121G&&exon4 | &&LDLR/Mut/361/T-G&&C121G&&exon4&&Mut/361/T-G&&C100G&&exon4 | ||
&&LDLR/Mut/388/T-A&&S130T&&exon4 | &&LDLR/Mut/388/T-A&&S130T&&exon4&&Mut/388/T-A&&S109T&&exon4 | ||
&&LDLR/Ins/389/C&&S130fsX50&&exon4 | &&LDLR/Ins/389/C&&S130fsX50&&exon4&&Ins/389/C&&S109fsX50&&exon4 | ||
&&LDLR/Mut/463/T-C&&C155R&&exon4 | &&LDLR/Mut/463/T-C&&C155R&&exon4&&Mut/463/T-C&&C134R&&exon4 | ||
&&LDLR/Mut/478/T-C&&C160R&&exon4 | &&LDLR/Mut/478/T-C&&C160R&&exon4&&Mut/478/T-C&&C139R&&exon4 | ||
&&LDLR/Mut/550/T-C&&C184R&&exon4 | &&LDLR/Mut/550/T-C&&C184R&&exon4&&Mut/550/T-C&&C163R&&exon4 | ||
&&LDLR/Mut/565/G-A&&V189M&&exon4 | &&LDLR/Mut/565/G-A&&V189M&&exon4&&Mut/565/G-A&&V168M&&exon4 | ||
&&LDLR/Mut/611/G-C&&C204S&&exon4 | &&LDLR/Mut/611/G-C&&C204S&&exon4&&Mut/611/G-C&&C183S&&exon4 | ||
&&LDLR/Mut/796/G-A&&C204S&&exon5 | &&LDLR/Mut/796/G-A&&C204S&&exon5&&Mut/796/G-A&&C183S&&exon5 | ||
&&LDLR/Mut/797/A-G&&D266G&&exon5 | &&LDLR/Mut/797/A-G&&D266G&&exon5&&Mut/797/A-G&&D245G&&exon5 | ||
&&LDLR/Mut/901/G-T&&D301Y&&exon6 | &&LDLR/Mut/901/G-T&&D301Y&&exon6&&Mut/901/G-T&&D280Y&&exon6 | ||
&&LDLR/Mut/1048/C-T&&R340X&&exon7 | &&LDLR/Mut/1048/C-T&&R340X&&exon7&&Mut/1048/C-T&&R329X&&exon7 | ||
&&LDLR/Ins/1061/T&&D354fsX4&&exon8 | &&LDLR/Ins/1061/T&&D354fsX4&&exon8&&Ins/1061/T&&D333fsX4&&exon8 | ||
&&LDLR/Mut/1252/G-A&&E418K&&exon9 | &&LDLR/Mut/1252/G-A&&E418K&&exon9&&Mut/1252/G-A&&E397K&&exon9 | ||
&&LDLR/Mut/1567/G-A&&V523M&&exon10 | &&LDLR/Mut/1567/G-A&&V523M&&exon10&&Mut/1567/G-A&&V502M&&exon10 | ||
&&LDLR/Mut/1587-1/G-A&&3'splice_acceptor_mutation&&intron10 | &&LDLR/Mut/1587-1/G-A&&3'splice_acceptor_mutation&&intron10 | ||
&&LDLR/Del/1871/TCA&&I624del&&exon13 | &&LDLR/Del/1871/TCA&&I624del&&exon13&&Del/1871/TCA&&I603del&&exon13 | ||
&& | &&LDLR/Mut/1925/T-C&&L642S&&exon13&&Mut/1925/T-C&&L621S&&exon13 | ||
&&LDLR/Mut/ | &&LDLR/Mut/2026/G-A&&G676S&&exon14&&Mut/2026/G-A&&G655S&&exon14 | ||
&&LDLR/Del/2055/G&&P685fsX24&&exon14&&el/2055/G&&P664fsX24&&exon14 | |||
&&LDLR/Mut/2312-3/C-A&&3'splice_acceptor_mutation&&intron15&& | |||
&&LDLR/Ins/2416/G&&V806fsX11&&exon17&&2416/G&&V785fsX11&&exon17 | |||
&& | |||
&&LDLR/Mut/ | |||
&& | |||
&&LDLR/ | |||
&& | |||
&&LDLR/Mut/ | |||
&& | |||
&&LDLR/ | |||
|title=Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population | |title=Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population | ||
|doi=10.1016/S0021-9150(02)00249-6 | |doi=10.1016/S0021-9150(02)00249-6 | ||
|pmid=12417285 | |pmid=12417285 | ||
}} | }} |
Revision as of 05:25, 27 March 2013
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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) | (Click a name to see records for each author.) |
Journal | Atherosclerosis (19 pages) |
Year | 2002 |
Volume | 165 |
Page | 335 |
Genetic mutations in this article
Reported Mutations (notation help) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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