JASReference:Shiga K:Fukuyama R:Kimura S:Nakajima K:Fushiki S:,J Neurol Neurosurg Psychiatry,1999,67,675

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Title Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis
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Journal Journal of Neurology Neurosurgery and Psychiatry     
(1 pages)
Year 1999
Volume 67
Page 675

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/1263+1/G-A 5'splice_donor_mutation intron7 Mut/In7/G-A - intron7 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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