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
Author(s)	Shiga_K   Fukuyama_R   Kimura_S   Nakajima_K   Fushiki_S  　  　(Click a name to see records for each author.)
Journal	Journal of Neurology Neurosurgery and Psychiatry      Other reports in this journal (1 pages)
Year	1999
Volume	67
Page	675

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference CYP27A1 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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