JASReference:Nozue T:Higashikata T:Inazu A:Kawashiri M:Nohara A:Kobayashi J:Koizumi J:Yamagishi M:Mabuchi H:,Intern Med,2010,49,1127

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Title Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis
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Journal Internal Medicine (Tokyo)     
(2 pages)
Year 2010
Volume 49
Page 1127

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/311/G-A R104Q exon2 This page
Mut/1322/G-A R441Q exon8 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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ページタイトルの書式（書き方）はここにあります。遺伝子変異情報の書式（書き方）はここにあります。

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