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新規変異を伴った頻回骨折を示した軽症骨形成不全症の一家系
https://tmu.repo.nii.ac.jp/records/12538
https://tmu.repo.nii.ac.jp/records/12538f23f1ce3-9a64-419d-993c-04368c60a93f
名前 / ファイル | ライセンス | アクション |
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toidaishi077010028 (697.2 kB)
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Item type | 症例報告 / Clinical Report(1) | |||||
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公開日 | 2019-06-26 | |||||
タイトル | ||||||
タイトル | 新規変異を伴った頻回骨折を示した軽症骨形成不全症の一家系 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Family with mild form of osteogenesis imperfecta with recurrent fractures due to novel mutation of COL1A1 | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | COL1A1 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 青色強膜 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 妊娠 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | オステオカルシン | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 骨型アルカリホスファターゼ | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | COL1A1 | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | blue sclera | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | pregnancy | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | osteocalcin | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | bone specific alkaline phosphatase | |||||
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 |
木村, 将裕
× 木村, 将裕× 高橋, 英城× 鈴木, 慎二× 沼部, 博直× 河島, 尚志 |
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著者別名 |
Kimura, Masahiro
× Kimura, Masahiro× Takahashi, Hidekuni× Suzuki, Shinji× Numabe, Hironao× Kawashima, Hisashi |
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書誌情報 |
東京医科大学雑誌 en : The Journal of Tokyo Medical University 巻 77, 号 1, p. 28-31, 発行日 2019-01-30 |
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出版者 | ||||||
出版者 | 東京医科大学医学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0040-8905 |