JASReference:Chen W:Kubota S:Nishimura Y:Nozaki S:Yamashita S:Nakagawa T:Kameda-Takemura K:Menju M:Matsuzawa Y:Björkhem I:Eggertsen G:Seyama Y:,Biochim Biophys Acta,1996,1317,119

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Title Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene
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Journal Biochimica et Biophysica Acta     
(9 pages)
Year 1996
Volume 1317
Page 119

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/1184/G-A R395H exon7 Mut/codon362/G-A R362H 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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