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ATP7B p.Ser1369Tyrfs*24突变致肝豆状核变性1例报告
DOI: 10.3969/j.issn.1001-5256.2023.04.021
伦理学声明：本例报告已获得患者家属知情同意。
利益冲突声明：所有作者均声明不存在利益冲突。
作者贡献声明：刘玉婷负责撰写论文；唐志慧负责收集资料；宾琼负责指导撰写文章，修改文章及最后定稿。
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关键词:
- 肝豆状核变性 /
- 高通量核苷酸序列分析 /
- ATP7B基因
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图 1 家系致病突变点及遗传图谱
注：a，ATP7B c.2662A＞C(p.Thr888Pro)致病突变位点测序图；b，ATP7B c.4106delC(p.Ser1369Tyrfs*24)致病突变位点测序图；c，家系遗传图谱。
Figure 1. Pathogenic mutation points and genetic map of the family
表 1 先证者及兄长ATP7B基因突变位点
Table 1. ATP7B gene mutation site of the proband and brother
基因 染色体位置 cDNA水平 蛋白水平 状态 变异分类 遗传自 ATP7B chr13∶52524211 NM_000053.4∶c.2662A＞C p.(Thr888Pro) 杂合 错义突变 母亲 ATP7B chr13∶52509747 NM_000053.4∶c.4106delC p.(Ser1369Tyrfs*24) 杂合 移码突变 父亲 
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