Objective To analyze the mutation characterization in exon 8 of ATP7B gene in Chinese Patients with Wilson disease(WD).
目的分析肝豆状核变性(WD)ATP7B基因8号外显子在中国人中的突变特点。
Objectives To study the feature of disease causing mutation of exon 12 of Wilson disease (WD) gene in Chinese and evaluate its value in direct gene diagnosis.
目的研究中国人肝豆状核变性(WD)基因12号外显子的突变特征,为建立直接基因诊断的方法提供理论依据。
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