JASReference:Togo M:Hashimoto Y:Iso-O N:Kurano M:Hara M:Kadowaki T:Koike K:Tsukamoto K:,Clin Chim Acta,2008,401,165: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&&ABCG5/Dup/ | &&ABCG5/Dup/830/19&&F284SfsX5&&exon7 | ||
&&ABCG5/Mut/1336/C-T&&R446X&&exon10 | &&ABCG5/Mut/1336/C-T&&R446X&&exon10 | ||
|title=Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases | |title=Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases | ||
|doi=10.1016/j.cca.2008.10.026 | |doi=10.1016/j.cca.2008.10.026 | ||
|pmid=19111681 | |pmid=19111681 | ||
|comment=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) | |||
}} | }} |
Latest revision as of 02:13, 8 June 2013
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Title | Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases |
Author(s) | (Click a name to see records for each author.) |
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) | ||||||||||||||||||||||||
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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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