WEKO3
アイテム
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4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)
http://hdl.handle.net/10191/33843
http://hdl.handle.net/10191/33843b6706ab2-d181-4cfb-bcce-66ff2fdeba4a
名前 / ファイル | ライセンス | アクション |
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104(4)_260-266.pdf (1.5 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2015-11-06 | |||||
タイトル | ||||||
タイトル | 4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会) | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | 4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会) | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Juvenile Sandhoff disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | N-acetyl-β-hexosaminidase | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | local panatrophy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | reduced mRNA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 若年性サンドホフ病 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ヘキソサミニダーゼ | |||||
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 | Molecular Genetic Analysis of Juvenile Sandhoff Disease(Disorders Characterized by Evidence of Abnormal Lipid Metabolism) | |||||
著者 |
若松, 延昭
× 若松, 延昭 |
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著者別名 | ||||||
識別子 | 135815 | |||||
識別子Scheme | WEKO | |||||
姓名 | Wakamatsu, Nobuaki | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | A case of juvenile type Sandhoff disease presenting with mental retardation and local panatrophy was reported. In the patient, total hexosaminidase (Hex) activity of leukocytes was decreased to 17% of control, and Hex B activity was barely detectable. On Cellogel electrophoresis, majority of the residural Hex activity in the patient's leukocyte was Hex S (α, α), and Hex A (α, β) was present in a minor form. On Southern blot hybridization analysis using Hex β subunit cDNA as a probe, the patient's DNA showed identical pattern to those of normal controls. On Northern blot hybridization analysis, the amount of Hex β mRNA was markedly reduced, although the size was identical to that of control. These results suggest that the new phenotype of Sandhoff disease is caused by a small mutation in the Hex β chain gene, which leads to decreased amount of Hex β mRNA. | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 104, 号 4, p. 260-266, 発行日 1990-04 |
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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 |