JASReference:Lu K:Lee MH:Hazard S:Brooks-Wilson A:Hidaka H:Kojima H:Ose L:Stalenhoef AF:Mietinnen T:Bjorkhem I:Bruckert E:Pandya A:Brewer HB Jr:Salen G:Dean M:Srivastava A:Patel SB:,Am J Hum Genet,2001,69,278: Difference between revisions
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&&ABCG5/Mut/1256/G-A&&R419H&&exon10 | &&ABCG5/Mut/1256/G-A&&R419H&&exon10 | ||
&&ABCG5/Mut/1650/A-C&&R550S&&exon13 | &&ABCG5/Mut/1650/A-C&&R550S&&exon13 | ||
&&ABCG5/Mut/876/C-T&&R243X&&exon7 | |||
&&ABCG5/Mut/1306/G-A&&R389H&&exon9 | |||
&&ABCG5/Mut/1362/C-T&&R408X&&exon10 | |||
&&ABCG5/Mut/1396/G-A&&R419H&&exon10 | |||
&&ABCG5/Mut/1790/A-C&&R550S&&exon13 | |||
|title=Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively | |title=Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively | ||
|doi=10.1086/321294 | |doi=10.1086/321294 | ||
|pmid=11452359 | |pmid=11452359 | ||
}} | }} |
Revision as of 08:28, 26 March 2013
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Title | Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively |
Author(s) | (Click a name to see records for each author.) |
Journal | American Journal of Human Genetics (2 pages) |
Year | 2001 |
Volume | 69 |
Page | 278 |
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. |