JASReference:Chen W:Kubota S:Kim KS:Cheng J:Kuriyama M:Eggertsen G:Björkhem I:Seyama Y:,J Lipid Res,1997,38,870

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Title Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families
Author(s) Chen_W  Kubota_S  Kim_KS  Cheng_J  Kuriyama_M  Eggertsen_G  Björkhem_I  Seyama_Y      (Click a name to see records for each author.)
Journal Journal of Lipid Research     Other reports in this journal (13 pages)
Year 1997
Volume 38
Page 870

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
CYP27A1 Mut/1214/G-A R405Q exon7 Mut/codon372/G-A R372Q exon7 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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