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Genotype and Phenotype Correlation of Dystrophic Epidermolysis Bullosa
http://hdl.handle.net/10129/692
http://hdl.handle.net/10129/692b0920ca8-5533-41e0-b944-5f0b31bf7063
名前 / ファイル | ライセンス | アクション |
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AN00211444_59_33.pdf (1.8 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2008-07-27 | |||||
タイトル | ||||||
タイトル | Genotype and Phenotype Correlation of Dystrophic Epidermolysis Bullosa | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | dystophic epidermolysis bullosa | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | type VII collagen | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | glycine substitution | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gene mutations | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 栄養障害型表皮水疱症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | VII型コラーゲン | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | グリシン置換 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 遺伝子変異 | |||||
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 | departmental bulletin paper | |||||
著者 |
Mayama, Mamiko
× Mayama, Mamiko× Tamai, Katsuto× Fukai, Kazuyoshi× Nakagawa, Toshifumi× Harada, Ken× Nakano, Hajime× Hanada, Katsumi× Hashimoto, Isao× Sawamura, Daisuke |
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著者(ヨミ) | ||||||
姓名 | マヤマ, マミコ | |||||
著者(ヨミ) | ||||||
姓名 | タマイ, カツト | |||||
著者(ヨミ) | ||||||
姓名 | フカイ, カズヨシ | |||||
著者(ヨミ) | ||||||
姓名 | ナカガワ, トシフミ | |||||
著者(ヨミ) | ||||||
姓名 | ハラダ, ケン | |||||
著者(ヨミ) | ||||||
姓名 | ナカノ, ハジメ | |||||
著者(ヨミ) | ||||||
姓名 | ハナダ, カツミ | |||||
著者(ヨミ) | ||||||
姓名 | ハシモト, イサオ | |||||
著者(ヨミ) | ||||||
姓名 | サワムラ, ダイスケ | |||||
著者別名 | ||||||
姓名 | 間山, 真美子 | |||||
著者別名 | ||||||
姓名 | 玉井, 克人 | |||||
著者別名 | ||||||
姓名 | 深井, 和吉 | |||||
著者別名 | ||||||
姓名 | 中川, 俊文 | |||||
著者別名 | ||||||
姓名 | 原田, 研 | |||||
著者別名 | ||||||
姓名 | 中野, 創 | |||||
著者別名 | ||||||
姓名 | 花田, 勝美 | |||||
著者別名 | ||||||
姓名 | 橋本, 功 | |||||
著者別名 | ||||||
姓名 | 澤村, 大輔 | |||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate School of Medicine | ||||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate School of Medicine | ||||||
著者所属 | ||||||
Osaka City University Graduate School of Medicine | ||||||
著者所属 | ||||||
Kagawa University Faculty of Medicine | ||||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate | ||||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate | ||||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate | ||||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate | ||||||
著者所属 | ||||||
Department of Dermatology, Hirosaki University Graduate | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
著者所属 | ||||||
大阪市立大学大学院医学研究科皮膚科分野 | ||||||
著者所属 | ||||||
香川医科大学医学部皮膚科学分野 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科皮膚科学分野 | ||||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Dystrophic epidermolysis bullosa (DEB) is a heritable mechanobullous skin disease derived frommutations in the type VII collagen gene (COL7A1). DEB cases are divided into dominant dystrophic EB (DDEB)and recessive dystrophic EB (RDEB). Most of the DDEB cases are induced by glycine substitution (GS) mutationbecause of its dominant negative effect, although there are silent GS which are not pathogenic without combinationof other mutation in COL7Al. To know the relations between clinical features and COL7A1 mutations, we examinedCOL7A1 gene mutation in two Japanese families with DEB. one is dominantly inherited and another is sporadic.We identified three mutations; 8068de117ins2 in case L G2395D/152de1G in case 2. Case 1 is DDEB, which does not resultfrom GS but from insertion/deletion mutation. In case 2, GS does not result in DDEB but causes recessive DEB (RDEB)with the combination of premature termination codon (PTC) in non-collagenous amino-terminal region (NC-l). Thisstudy demonstrates novel COL7A1 mutations for DEB and furthers our understanding of genotype-phenotype correlationdisplayed in DEB patients. | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 弘前医学. 59, 2007, p.33-40 | |||||
書誌情報 |
弘前医学 巻 59, 号 1, p. 33-40, 発行日 2007-11-15 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0439-1713 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00211444 | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
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 | |||||
日本十進分類法 | ||||||
主題Scheme | NDC | |||||
主題 | 494.8 | |||||
その他のタイトル | ||||||
その他のタイトル | 優性栄養型表皮水疱症における臨床型と遺伝子型の関連 | |||||
タイトル(ヨミ) | ||||||
その他のタイトル | ユウセイ エイヨウガタ ヒョウヒ スイホウショウ ニ オケル リンショウガタ ト イデンシガタ ノ カンレン | |||||
NIIサブジェクト | ||||||
主題Scheme | Other | |||||
主題 | 外科系臨床医学 | |||||
出版者 | ||||||
出版者 | 弘前大学大学院医学研究科・弘前医学会 | |||||
資源タイプ | ||||||
値 | Article |