JASReference:Chen W:Kubota S:Nishimura Y:Nozaki S:Yamashita S:Nakagawa T:Kameda-Takemura K:Menju M:Matsuzawa Y:Björkhem I:Eggertsen G:Seyama Y:,Biochim Biophys Acta,1996,1317,119: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&& | &&CYP27A1/Mut/1184/G-A&&R395H&&exon7&&Mut/codon362/G-A&&R362H&&exon7 | ||
|title=Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene | |title=Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene | ||
|doi=10.1016/S0925-4439(96)00043-9 | |doi=10.1016/S0925-4439(96)00043-9 | ||
|pmid=8950197 | |pmid=8950197 | ||
}} | }} |
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Title | Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene |
Author(s) | (Click a name to see records for each author.) |
Journal | Biochimica et Biophysica Acta (9 pages) |
Year | 1996 |
Volume | 1317 |
Page | 119 |
Genetic mutations in this article
Reported Mutations (notation help) | ||||||||||||||||
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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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