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J-GLOBAL ID：201502207488234564   Reference number：15A0805250

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

軽症XP-D/CS(重症ではない)の変異XPDアレルから得られた他のXPDアイソフォームを利用してTFIIH不安定性を建設的にレスキューする

Author (11)： HORIBATA Katsuyoshi (Osaka Univ., Osaka, JPN) ,  KONO Sayaka (Osaka Univ., Osaka, JPN) ,  ISHIGAMI Chie (Osaka Univ., Osaka, JPN) ,  ZHANG Xue (Osaka Univ., Osaka, JPN) ,  AIZAWA Madoka (Chiba Children’s Hospital, Chiba, JPN) ,  KAKO Yuko (Chiba Children’s Hospital, Chiba, JPN) ,  ISHII Takuma (Chiba Children’s Hospital, Chiba, JPN) ,  ISHII Takuma (Kawaguchi Kogyo General Hospital, Saitama, JPN) ,  KOSAKI Rika (National Center for Child Health and Dev., Tokyo, JPN) ,  SAIJO Masafumi (Osaka Univ., Osaka, JPN) ,  TANAKA Kiyoji (Osaka Univ., Osaka, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 60  Issue： 5  Page： 259-265  Publication year： May. 2015 
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： human(primates) ,...
Semi thesaurus term： *Cockayne Syndrome ,...

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (25)：

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Terms in the title (12)： 軽症 ,  XP ,  Cs ,  重症 ,  変異 ,  XPD ,  アレル ,  アイソフォーム ,  TFIIH ,  不安定性 ,  建設 ,  レスキュー