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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)

http://hdl.handle.net/10091/16871
http://hdl.handle.net/10091/16871
69e18b7c-ae9e-4bff-84ab-9da04e50995d
名前 / ファイル ライセンス アクション
A_novel_nonsense_mutation_Japanese_family.pdf A_novel_nonsense_mutation_Japanese_family.pdf (197.0 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2013-04-01
タイトル
タイトル A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
言語
言語 eng
DOI
関連識別子 https://doi.org/10.1038/jhg.2009.104
関連名称 10.1038/jhg.2009.104
キーワード
主題 ataxia with oculomotor apraxia type 2 (AOA2), sensory-motor neuropathy, senataxin, fiber type grouping
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Nakamura, Katsuya

× Nakamura, Katsuya

en Nakamura, Katsuya

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Yoshida, Kunihiro

× Yoshida, Kunihiro

en Yoshida, Kunihiro

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Makishita, Hideo

× Makishita, Hideo

en Makishita, Hideo

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Kitamura, Eiko

× Kitamura, Eiko

en Kitamura, Eiko

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Hashimoto, Shiori

× Hashimoto, Shiori

en Hashimoto, Shiori

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Ikeda, Shu-ichi

× Ikeda, Shu-ichi

en Ikeda, Shu-ichi

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信州大学研究者総覧へのリンク
氏名 Yoshida, Kunihiro
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html
出版者
出版者 NATURE PUBLISHING GROUP
引用
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
抄録
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)
ISSN
収録物識別子タイプ PISSN
収録物識別子 1434-5161
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AA11206160
PubMed
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/19893583
関連名称 19893583
権利
権利情報 Copyright© 2009 The Japan Society of Human Genetics
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
WoS
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000273407800010
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Cite as

Nakamura, Katsuya, Yoshida, Kunihiro, Makishita, Hideo, Kitamura, Eiko, Hashimoto, Shiori, Ikeda, Shu-ichi, 2009, A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2): NATURE PUBLISHING GROUP, 746–748 p.

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