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J-GLOBAL ID：201402271475084549   Reference number：14A0817973

Signature of backward replication slippage at the copy number variation junction

コピー数変異ジャンクションでの逆行複製スリップのシグネチャー

Author (5)： OHYE Tamae (Fujita Health Univ., Toyoake, JPN) ,  INAGAKI Hidehito (Fujita Health Univ., Toyoake, JPN) ,  OZAKI Mamoru (Kanazawa Medical Univ., Ishikawa, JPN) ,  IKEDA Toshiro (Kagoshima Univ., Kagoshima, JPN) ,  KURAHASHI Hiroki (Fujita Health Univ., Toyoake, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 59  Issue： 5  Page： 247-250  Publication year： May. 2014 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： copy number ,...
Semi thesaurus term： de novo mutation ,...

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JST classification (2)： Molecular genetics in general  (EC02010J) ,  Basic gynecology and obstetrics  (GS01020L)

Reference (25)：

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• Shaikh, T. H., Kurahashi, H. & Emanuel, B. S. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet. Med. 3, 6-13 (2001).
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• Baumer, A., Dutly, F., Balmer, D., Riegel, M., Tukel, T., Krajewska-Walasek, M. et al. High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum. Mol. Genet. 7, 887-894 (1998).

Terms in the title (6)： コピー数 ,  変異 ,  ジャンクション ,  複製 ,  スリップ ,  シグネチャー