JASReference:Nakashima N:Sakai Y:Sakai H:Yanase T:Haji M:Umeda F:Koga S:Hoshita T:Nawata H:,J Lipid Res,1994,35,663: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&&CYP27A1/Mut/409/C-T&&R137W&&exon2&&Mut/codon104/C-T&&R104W&&exon2 | |||
|title=A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis | |title=A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis | ||
|doi= | |doi= | ||
|pmid=8006521 | |pmid=8006521 | ||
}} | }} |
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Title | A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis |
Author(s) | (Click a name to see records for each author.) |
Journal | Journal of Lipid Research (13 pages) |
Year | 1994 |
Volume | 35 |
Page | 663 |
Genetic mutations in this article
Reported Mutations (notation help) | ||||||||||||||||
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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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