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Intermittent X-linked thrombocytopenia with a novel WAS gene mutation
http://hdl.handle.net/2297/36924
http://hdl.handle.net/2297/36924b7fdfa31-d16f-46e0-bf78-09b93fdec1e2
名前 / ファイル | ライセンス | アクション |
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HO-PR-WADA-T-746.pdf (200.8 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2017-10-05 | |||||
タイトル | ||||||
タイトル | Intermittent X-linked thrombocytopenia with a novel WAS gene mutation | |||||
言語 | ||||||
言語 | eng | |||||
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 |
Wada, Taizo
× Wada, Taizo× Itoh, Masatsune× Maeba, Hideaki× Toma, Tomoko× Niida, Yo× Saikawa, Yutaka× Yachie, Akihiro |
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書誌情報 |
Pediatric Blood and Cancer 巻 61, 号 4, p. 746-748, 発行日 2014-04-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1545-5009 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11876210 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1002/pbc.24787 | |||||
出版者 | ||||||
出版者 | Wiley | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | X-linked thrombocytopenia (XLT) is caused by mutations in the WAS gene and characterized by thrombocytopenia with minimal or no immunodeficiency. Patients with XLT usually exhibit persistent thrombocytopenia, and intermittent thrombocytopenia has been described only in two families. Here, we report a patient with intermittent XLT carrying a novel missense mutation (Ala56Thr). He showed residual expression of Wiskott-Aldrich syndrome protein in the lymphocytes and platelets. There appeared to be an association between normal platelet numbers and a post infectious state. Our findings further support the importance of analysis of Wiskott-Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia. Pediatr Blood Cancer 2014;61:746-748. © 2013 Wiley Periodicals, Inc. | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa |