JASReference:Koyama S:Kawanami T:Tanji H:Arawaka S:Wada M:Saito N:Kato T:,Clin Neurol Neurosurg,2012,114,1021

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Title	A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene
Author(s)	Koyama_S   Kawanami_T   Tanji_H   Arawaka_S   Wada_M   Saito_N   Kato_T  　  　(Click a name to see records for each author.)
Journal	Clinical Neurology and Neurosurgery      Other reports in this journal (0 pages)
Year	2012
Volume	114
Page	1021

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference CYP27A1 Mut/1238/T-A V413D 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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