Item type |
学術雑誌論文 / Journal Article(1) |
公開日 |
2013-04-01 |
タイトル |
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タイトル |
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2) |
言語 |
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言語 |
eng |
DOI |
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関連識別子 |
https://doi.org/10.1038/jhg.2009.104 |
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関連名称 |
10.1038/jhg.2009.104 |
キーワード |
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主題 |
ataxia with oculomotor apraxia type 2 (AOA2), sensory-motor neuropathy, senataxin, fiber type grouping |
資源タイプ |
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資源 |
http://purl.org/coar/resource_type/c_6501 |
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タイプ |
journal article |
著者 |
Nakamura, Katsuya
Yoshida, Kunihiro
Makishita, Hideo
Kitamura, Eiko
Hashimoto, Shiori
Ikeda, Shu-ichi
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信州大学研究者総覧へのリンク |
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氏名 |
Yoshida, Kunihiro |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html |
出版者 |
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出版者 |
NATURE PUBLISHING GROUP |
引用 |
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内容記述 |
JOURNAL OF HUMAN GENETICS. 54(12):746-748 (2009) |
書誌情報 |
JOURNAL OF HUMAN GENETICS
巻 54,
号 12,
p. 746-748,
発行日 2009-12
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抄録 |
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内容記述 |
We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2 (AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly progressive cerebellar ataxia and sensory-motor neuropathy and an elevated level of serum alpha-fetoprotein (AFP). All of these clinical features were consistent with typical AOA2. She lacked oculomotor apraxia, as frequently observed in previously reported AOA2 patients. She was homozygous for a novel nonsense mutation, Glu385Ter (E385X), in the senataxin gene (SETX). To our knowledge, this is the fifth Japanese family with genetically confirmed AOA2. The mutations in SETX in Japanese AOA2 families are heterogeneous, except for M274I, which has been found in two unrelated families. More extensive screening by serum AFP followed by molecular genetic analysis of SETX in patients with Friedreich's ataxia-like phenotype may show that AOA2 is more common in Japan than previously thought. Journal of Human Genetics (2009) 54, 746-748; doi: 10.1038/jhg.2009.104; published online 6 November 2009 |
資源タイプ(コンテンツの種類) |
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内容記述 |
Article |
ISSN |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
1434-5161 |
書誌レコードID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA11206160 |
PubMed |
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関連識別子 |
https://pubmed.ncbi.nlm.nih.gov/19893583 |
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関連名称 |
19893583 |
権利 |
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権利情報 |
Copyright© 2009 The Japan Society of Human Genetics |
出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
WoS |
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URL |
http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000273407800010 |