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Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy
http://hdl.handle.net/10470/00032482
http://hdl.handle.net/10470/0003248229f3b285-01d0-4470-b020-e5aa0f3f1ef5
名前 / ファイル | ライセンス | アクション |
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0300000073.pdf (459.1 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2020-07-15 | |||||
タイトル | ||||||
タイトル | Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | RNA splicing | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | hemi-allelic expression | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | neonatal seizure | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | damaging scores | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | reverse transcribed-PCR | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者名 |
YANAGISHITA, Tomoe
× YANAGISHITA, Tomoe× YAMAMOTO-SHIMOJIMA, Keiko× KOIKE, Takayoshi× NASU, Hirosato× TAKAHASHI, Yukitoshi× AKIYAMA, Tomoyuki× NAGATA, Satoru× YAMAMOTO, Toshiyuki |
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出版者 | ||||||
出版者 | 東京女子医科大学学会 | |||||
受付日付 | ||||||
日付 | 2020-07-15 | |||||
日付タイプ | Created | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2432-6186 | |||||
書誌情報 |
Tokyo Women's Medical University Journal 巻 3, p. 73-77, 発行日 2019-12-20 |
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DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.24488/twmuj.2019005|10.24488/twmuj.2019005 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan/Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan | ||||||
著者所属 | ||||||
Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan/Tokyo Women’s Medical University Institute of Integrated Medical Sciences, Tokyo, Japan | ||||||
著者所属 | ||||||
Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan | ||||||
著者所属 | ||||||
Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan | ||||||
著者所属 | ||||||
Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan | ||||||
著者所属 | ||||||
Department of Child Neurology, Okayama University School of Medicine, Okayama, Japan | ||||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan | ||||||
著者所属 | ||||||
Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan/Tokyo Women’s Medical University Institute of Integrated Medical Sciences, Tokyo, Japan |