JASReference:Togo M:Hashimoto Y:Iso-O N:Kurano M:Hara M:Kadowaki T:Koike K:Tsukamoto K:,Clin Chim Acta,2008,401,165

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Title Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases
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Journal Clinica Chimica Acta     
(3 pages)
Year 2008
Volume 401
Page 165

Duplication starts from the 2nd base of Pro277 (CCA). There is a typo in Figure 1 of the article, where the triplet for Pro is written as GCA. The sequencer output of the Figure 1 is correct (CCA). (by Masanori Arita)

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Dup/830/19 F284SfsX5 exon7 This page
Mut/1336/C-T R446X exon10 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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