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アイテム
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3)Machado-Joseph 病の分子遺伝学的解析(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
http://hdl.handle.net/10191/42314
http://hdl.handle.net/10191/42314c6d4d1b3-d796-47b4-8036-774bce8ff60a
名前 / ファイル | ライセンス | アクション |
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2016-06-27 | |||||
タイトル | ||||||
タイトル | 3)Machado-Joseph 病の分子遺伝学的解析(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会) | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | 3)Machado-Joseph 病の分子遺伝学的解析(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会) | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Machado-Joseph disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | spinocerebellar degeneration | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | linkage analysis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | chromosome 14 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | positional cloning | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ジョセフ病 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 脊髄小脳変性症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 連鎖解析 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
その他のタイトル | ||||||
その他のタイトル | Positional Cloning of Machado-Joseph Disease (Pathophysiology of Hereditary Neurologic Diseases) | |||||
著者 |
田中, 一
× 田中, 一 |
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著者別名 | ||||||
識別子 | 116749 | |||||
識別子Scheme | WEKO | |||||
姓名 | Tanaka, Hajime | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Machado-Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Although it was first reported in families of Portuguese-Azorean descent, MJD has also been described in non-Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations. With the use of highly polymorphic microsatellite DNA polymorphisms, we have assigned the gene for MJD to the long arm of chromosome 14 (14q24.3-q32.1) by genetic linkage to microsatellite loci D14S55 and D14S48 (multipoint lod score Zmax=9.719). | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 109, 号 4, p. 167-174, 発行日 1995-04 |
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出版者 | ||||||
出版者 | 新潟医学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00290440 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00182415 | |||||
著者版フラグ | ||||||
値 | publisher |