JASReference:Chen W:Kubota S:Kim KS:Cheng J:Kuriyama M:Eggertsen G:Björkhem I:Seyama Y:,J Lipid Res,1997,38,870: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&& | &&CYP27A1/Mut/1214/G-A&&R405Q&&exon7&&Mut/codon372/G-A&&R372Q&&exon7 | ||
|title=Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families | |title=Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families | ||
|doi= | |doi= | ||
|pmid=9186905 | |pmid=9186905 | ||
}} | }} | ||
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| Title | Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families |
| Author(s) | (Click a name to see records for each author.) |
| Journal | Journal of Lipid Research (13 pages) |
| Year | 1997 |
| Volume | 38 |
| Page | 870 |
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. |
