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Variant Type 2B von Willebrand Disease; No Responsible Mutations atthe von Willebrand Factor A1 Domain and the Surrounding Region
http://hdl.handle.net/10191/1946
http://hdl.handle.net/10191/19460676a9c6-8185-489e-b23c-e7dd2734326c
名前 / ファイル | ライセンス | アクション |
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KJ00000007288.pdf (2.5 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2007-05-10 | |||||
タイトル | ||||||
タイトル | Variant Type 2B von Willebrand Disease; No Responsible Mutations atthe von Willebrand Factor A1 Domain and the Surrounding Region | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Variant Type 2B von Willebrand Disease; No Responsible Mutations atthe von Willebrand Factor A1 Domain and the Surrounding Region | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | type 2B von Willebrand disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | von Willebrand factor | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | A1 domain | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gene analysis | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
著者 |
FUSE, Ichiro
× FUSE, Ichiro× HIGUCHI, Wataru× UESUGI, Yumiko× AIZAWA, Yoshifusa |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | We encountered a patient with variant of type 2B von Willebrand disease (vWD) who showed increased ristocetin-induced platelet aggregation, persistent thrombocytopenia, spontaneous platelet aggregation and normal vWF multimeric pattern in his plasma. However, we could not find any responsible mutations in or around the 505-695 disulfide loop (A1 loop) of the von Willebrand factor (vWF), at which all type 2B vWD candidate mutations have been reported to be clustered. This suggests that an unidentified vWF functional domain facilitating binding to platelet GPIb may exist at a site other than the A1 loop and the surrounding region. | |||||
書誌情報 |
Acta medica et biologica en : Acta medica et biologica 巻 49, 号 1, p. 11-17, 発行日 2001-03 |
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出版者 | ||||||
出版者 | Niigata University School of Medicine | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 05677734 | |||||
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収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00508361 | |||||
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値 | publisher |