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Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K)
http://hdl.handle.net/10458/1962
http://hdl.handle.net/10458/19628ce3872d-54ce-4216-900c-33a0a12d88c1
Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2009-03-19 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K) | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
キーワード | Exon 5, GTP Cyclohydrolase I, Hereditary progressive dystonia, Missense mutation, Segawa disease | |||||
資源タイプ | ||||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
著者 |
布井, 博幸
× 布井, 博幸× Ikeda, T.× Kanmura, K.× Kodama, Y.× Sawada, K.× 布井, 博幸× Hasegawa, K. |
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書誌情報 |
en : Brain & development 巻 31, 号 2, p. 173-175, 発行日 2009-02 |
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出版者 | ||||||
言語 | en | |||||
出版者 | Elsevier | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 03877604 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00111153 |