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ナグラ ミチアキ
NAGURA Michiaki
奈倉 道明 所属 埼玉医科大学 医学部 総合医療センター 小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター） 職種 専任講師 |
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| 論文種別 | 学術雑誌(原著) |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C |
| 掲載誌名 | 正式名：International Journal of Molecular Medicine |
| 巻・号・頁 | 2003(11),45-47頁 |
| 発行年月 | 2003/11 |
| 概要 | We suspected that Rab6KIFL, one of the kinesin superfamily proteins, might be involved in the pathophysiology of CMT4C, because Rab6KIFL gene is located in 5q31. The coding regions of the Rab6KIFL gene of genomic DNA derived from one Algerian family with CMT4C were analyzed by direct sequencing. No mutation in Rab6KIFL gene was found in this family. |