Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

FUKUSHIMA Takao; KANEOKA Hidetoshi; KANEOKA Hidetoshi; YASUNO Tetsuhiko; SASAGURI Yukari; TOKUYASU Tomoko; TOKORO Kuniko; FUKAO Toshiyuki; SAITO Takao

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J-GLOBAL ID：201402277232478008 Reference number：14A0161448

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

カルニチン-アシルカルニチントランスロカーゼ(CACT)欠損患者および健常者のCACT遺伝子における3つの新規変異

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Material：
Volume： 58 Issue： 12 Page： 788-793 Publication year： Dec. 2013
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)

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