| 抗凝血酶基因C2757T杂合突变致Ⅰ型遗传性抗凝血酶缺陷症 |
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| 引用本文： | Zhou RF,Dai Q,Fu QH,Wang WB,Xue S,Ding QL,Hu YQ,Wang XF,Wang HL. 抗凝血酶基因C2757T杂合突变致Ⅰ型遗传性抗凝血酶缺陷症[J]. 中华医学杂志, 2005, 85(23): 1640-1642 |
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| 作者姓名： | Zhou RF Dai Q Fu QH Wang WB Xue S Ding QL Hu YQ Wang XF Wang HL |
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| 作者单位： | 200025,上海第二医科大学附属瑞金医院,上海血液学研究所 |
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| 摘 要： | 遗传性抗凝血酶(antithrombin,AT)缺陷症是由AT基因突变引起,可分2型：Ⅰ型主要表现为AT抗原(AT：Ag)和活性(AT：A)水平的同步减低,Ⅱ型由AT结构异常所致。国外已报道300余例,基因突变种类超过130种;但国内仅我们报道过1例。本文对另一个AT缺陷症家系进行研究。发现此家系为Ⅰ型遗传性AT缺陷症,由AT基因C2757T杂合突变引起。
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| 关 键 词： | 抗凝血酶基因 C2757T 突变 Ⅰ型遗传性抗凝血酶缺陷症 |
Type I hereditary antithrombin deficiency due to C2757T heterozygotic mutation in antithrombin gene |
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| Zhou Rong-fu,Dai Qing,Fu Qi-hua,Wang Wen-bing,Xue Shuang,Ding Qiu-lan,Hu Yi-qun,Wang Xue-feng,Wang Hong-li. Type I hereditary antithrombin deficiency due to C2757T heterozygotic mutation in antithrombin gene[J]. Zhonghua yi xue za zhi, 2005, 85(23): 1640-1642 |
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| Authors: | Zhou Rong-fu Dai Qing Fu Qi-hua Wang Wen-bing Xue Shuang Ding Qiu-lan Hu Yi-qun Wang Xue-feng Wang Hong-li |
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| Affiliation: | Shanghai Institute of Hematology, Affiliated Rujin Hospital, Shanghai Second Medical University, Shanghai 200025, China |
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| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ |
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