JASReference:Kim KS:Kubota S:Kuriyama M:Fujiyama J:Björkhem I:Eggertsen G:Seyama Y:,J Lipid Res,1994,35,1031

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Title Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)
Author(s) Kim_KS  Kubota_S  Kuriyama_M  Fujiyama_J  Björkhem_I  Eggertsen_G  Seyama_Y      (Click a name to see records for each author.)
Journal Journal of Lipid Research     Other reports in this journal (13 pages)
Year 1994
Volume 35
Page 1031

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
CYP27 Mut/1420/C-T This page
CYP27 Mut/1421/G-A This page

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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。

Format of the page

The format of the page title is here. The format of mutation information is here.


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