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

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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)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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Journal American Journal of Human Genetics     
(2 pages)
Year 2001
Volume 69
Page 278

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Del/Ex3/Ex3 - exon3 This page
Mut/727/C-T R243X exon7 Mut/876/C-T R243X exon7 This page
Mut/1166/G-A R389H exon9 Mut/1306/G-A R389H exon9 This page
Mut/1222/C-T R408X exon10 Mut/1362/C-T R408X exon10 This page
Mut/1256/G-A R419H exon10 Mut/1396/G-A R419H exon10 This page
Mut/1650/A-C R550S exon13 Mut/1790/A-C R550S exon13 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。