文書・図像類

ケトン体代謝異常症の分子病態 : 蛋白3次構造変化とスプライシング異常を中心に

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ケトン体代謝異常症の分子病態 : 蛋白3次構造変化とスプライシング異常を中心に

Material type
文書・図像類
Author
深尾, 敏幸
Publisher
-
Publication date
2008-03
Material Format
Paper
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研究報告書平成18年度-平成19年度科学研究費補助金 (基盤研究(C) 一般 小児科学 課題番号18591148) 研究成果報告書

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Table of Contents

  • 17-29p: 深尾敏幸. ケトン体代謝異常症:特にアセトン血性嘔吐症と鑑別すべきサクシニル-CoA:3-ケト酸CoAトランスフェラーゼ(SCOT)欠損症を中心に. 日本小児科学会雑誌. 2007 111(6): 727-739

  • 30-40p: Gobin-Limballe S. et al., Genetic Basis for Correction of Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy. Americal Journal of Human Genetics. 2007 81(6): 1133-1143

  • 41-43p: Fukao T. et al., A 6-bp Deletion at the Splice Donor Site of the First Intron Resulted in Aberrant Splicing Using a Cryptic Splice Site within Exon 1 in a Patient with Succinyl-CoA: 3-Ketoacid CoA Transferase (SCOT) Deficiency. Molecular Genetics and Metabolism. 2006 89(3): 280-282

  • 44-50p: Yamada K. et al., Single-Base Substitution at the Last Nucleotide of Exon 6 (c.671G >A), Resulting in the Skipping of Exon 6, and Exons 6 and 7 in Human Succinyl-CoA: 3-Ketoacid CoA Transferase(SCOT) Gene. Molecular Genetics and Metabolism. 2007 90(3): 291-297

  • 51-56p: Fukao T. et al., Identification and Characterization of a Temperature-Sensitive R268H Mutation in the Human Succinyl-CoA: 3-Ketoacid CoA Transferase(SCOT) Gene. Molecular Genetics and Metabolism. 2007 92(3): 216-221

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  • Gifu University Institutional Repository

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Paper

Material Type
文書・図像類
Author/Editor
深尾, 敏幸
Author Heading
Publication Date
2008-03
Publication Date (W3CDTF)
2008-03
Text Language Code
jpn
Target Audience
一般
Note (General)
研究報告書
平成18年度-平成19年度科学研究費補助金 (基盤研究(C) 一般 小児科学 課題番号18591148) 研究成果報告書