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Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome
http://hdl.handle.net/2241/115013
http://hdl.handle.net/2241/115013783922cf-bcd9-4552-a219-1739ccd73791
名前 / ファイル | ライセンス | アクション |
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MI_49-1.pdf (205.0 kB)
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Item type | Journal Article(1) | |||||
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公開日 | 2012-02-03 | |||||
タイトル | ||||||
タイトル | Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
Mukai, Saki
× Mukai, Saki× Hidaka, Yoshihiko× Hirota-Kawadobora, Masako× Matsuda, Kazuyuki× Fujihara, Noriko× Takezawa, Yuka× Kubota, Seiko× Koike, Kenichi× Honda, Takayuki× Yamauchi, Kazuyoshi |
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著者別名 |
山内, 一由
× 山内, 一由 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Mutations and polymorphisms of factor H gene (FH1) are known to be closely involved in the development of atypical hemolytic uremic syndrome (aHUS). Several groups have identified disease risk mutations and polymorphisms of FH1 for the development of aHUS, and have investigated frequencies of aHUS in a number of ethnic groups. However, such studies on Japanese populations are limited. In the present study, we analyzed FH1 in Japanese aHUS patients and healthy volunteers, and examined whether those variants impacted on a tendency for the development of aHUS in Japanese populations. Similar to previous studies, we found that a high frequency of FH1 mutations, located in exon 23 of FH1, encodes short consensus repeat 20 in C-terminal end of factor H molecule in patients with aHUS (40%), but not in healthy volunteers. Interestingly, no significant differences in frequency of well-known disease risk polymorphisms for aHUS were observed between healthy volunteers and aHUS patients. Our results suggested that although FH1 mutations relates to the development of Japanese aHUS in accordance with other ethnic studies, other factor may be required for factor H polymorphism to be a risk factor of Japanese aHUS. |
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書誌情報 |
Molecular immunology 巻 49, 号 1-2, p. 48-55, 発行日 2011-10 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0161-5890 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00307483 | |||||
PubMed番号 | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 21868097 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.molimm.2011.07.017 | |||||
権利 | ||||||
権利情報 | © 2011 Elsevier Ltd. NOTICE: this is the author’s version of a work that was accepted for publication in Molecular Immunology. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in PUBLICATION, Volume 49(1-2),2011, P.48-55 DOI:10.1016/j.molimm.2011.07.017 |
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著者版フラグ | ||||||
値 | author | |||||
出版者 | ||||||
出版者 | Elsevier | |||||
URI | ||||||
識別子 | http://hdl.handle.net/2241/115013 | |||||
識別子タイプ | HDL |