| 基因诊断一家系3例Wilson病报道 |
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| 引用本文： | 张敏娜,王春平.基因诊断一家系3例Wilson病报道[J].胃肠病学和肝病学杂志,2012,21(1):76-77. |
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| 作者姓名： | 张敏娜 王春平 |
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| 作者单位： | 解放军302医院肝脏肿瘤诊疗与研究中心,北京,100039 |
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| 摘 要： | 一家系3例以肝病为主要临床表现的患者,经ATP7B基因分析确诊为Wilson病。提示ATP7B基因分析对临床表现不典型的Wilson病患者具有重要的诊疗意义。
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| 关 键 词： | Wilson病 ATP7B基因 突变 |
Diagnosis of three members in a family with Wilson disease by ATP7B gene analysis |
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| ZHANG Minna
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WANG Chunping.Diagnosis of three members in a family with Wilson disease by ATP7B gene analysis[J].Chinese Journal of Gastroenterology and Hepatology,2012,21(1):76-77. |
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| Authors: | ZHANG Minna WANG Chunping |
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| Institution: | Department of Liver Cancer,302 Hospital of PLA,Beijing 100039,China |
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| Abstract: | Three members in a family,presenting with hepatic symptoms,were diagnosed with Wilson disease by ATP7B gene analysis.This indicates that genetic testing is very important to the diagnosis of Wilson disease,especially in patients absent of typical clinical features. |
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| Keywords: | Wilson disease ATP7B gene Mutation |
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