JASReference:Hattori H:Nagano M:Iwata F:Homma Y:Egashira T:Okada T:,Hum Mutat,1999,14,87: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&& | &&LDLR/Del/355/7&&G119AfsX85&&exon4 | ||
&&LDLR/Dup/661/21&&D221-D227dup&&exon4 | |||
&&LDLR/Dup/1242/5&&R416fsX12&&exon9 | |||
&&LDLR/Mut/1291/G-A&&A431T&&exon9 | |||
&&LDLR/Mut/1599/G-A&&W523X&&exon11 | |||
&&LDLR/Ins/1687/C&&N564QfsX16&&exon11 | |||
&&LDLR/Mut/1702/C-G&&L568V&&exon11 | |||
&&LDLR/Ins/2035/T&&Y679LfsX38&&exon14 | |||
&&LDLR/Mut/2140/G-A&&E714K&&exon14 | |||
|title=Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online | |title=Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online | ||
|doi=10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.0.CO;2-Q | |doi=10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.0.CO;2-Q | ||
|pmid=10447263 | |pmid=10447263 | ||
}} | }} |
Revision as of 03:23, 20 July 2012
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Title | Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online |
Author(s) | (Click a name to see records for each author.) |
Journal | Human Mutation (2 pages) |
Year | 1999 |
Volume | 14 |
Page | 87 |
Genetic mutations in this article
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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。 |
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The format of the page title is here. The format of mutation information is here. |