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頁籤選單縮合
題 名 | Mutation Analysis of TypeⅡ Gaucher Disease in Five Taiwanese Children: Identification of Two Novel Mutations=第二型高雪氏症的突變分析 |
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作 者 | 蔡輔仁; 李正淳; 吳玫珍; 林炫沛; 林清淵; 蔡長海; 兒玉浩子; 鄔哲源; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 42:4 民90.07-08 |
頁 次 | 頁231-235+259 |
分類號 | 417.509 |
關鍵詞 | 第二型高雪氏症; 突變; TypeⅡ gaucher disease; Acid beta-glucosidase; GBA; Mutation; |
語 文 | 英文(English) |