JASReference:Kim KS:Kubota S:Kuriyama M:Fujiyama J:Björkhem I:Eggertsen G:Seyama Y:,J Lipid Res,1994,35,1031: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&& | &&CYP27A1/Mut/1420/C-T&&R474W&&exon8&&Mut/codon441/C-T&&R441W&&exon8 | ||
&& | &&CYP27A1/Mut/1421/G-A&&R474Q&&exon8&&Mut/codon441/G-A&&R441Q&&exon8 | ||
|title=Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX) | |title=Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX) | ||
|doi= | |doi= | ||
|pmid=7915755 | |pmid=7915755 | ||
}} | }} | ||
Latest revision as of 05:55, 27 March 2013
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| Title | Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX) |
| Author(s) | (Click a name to see records for each author.) |
| Journal | Journal of Lipid Research (13 pages) |
| Year | 1994 |
| Volume | 35 |
| Page | 1031 |
Genetic mutations in this article
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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. |
