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肝豆状核变性家系全基因组分析1例报告

胡亚欣 程卓 丛硕 刘咏梅 张宝芳 雷榆 严昭 张懿炜 蒲茜 余蕾 程明亮

引用本文:
Citation:

肝豆状核变性家系全基因组分析1例报告

DOI: 10.3969/j.issn.1001-5256.2022.07.029
基金项目: 

国家自然科学基金 (81760116)

贵州省中管局项目 (QZYY-2018-016)

伦理学声明:本例报告已获得患者知情同意。
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:胡亚欣、余蕾对研究的思路或设计有关键贡献;张宝芳、程卓、丛硕、刘咏梅、雷榆、蒲茜、严昭、张懿炜负责研究数据的获取分析;胡亚欣、程卓参与起草和修改文章关键内容;程明亮负责审核并最终定稿。
详细信息
    通信作者:

    程明亮,ming-liangcheng@21cn.com

Whole genome analysis of a Wilson's disease family

Research funding: 

National Natural Science Foundation of China (81760116);

Project of Guizhou Provincial Administration of Traditional Chinese Medicine (QZYY-2018-016)

More Information
  • 图  1  患者家族系谱图

    Figure  1.  Family tree of the patient with Wilson's disease

    图  2  基于SNP位点的GO分析

    注:a,先证者妹妹的基因突变富集的GO分子功能分析;b,先证者基因突变富集的GO分子功能。

    Figure  2.  GO analysis based on SNP

    图  3  ATP7B结构及患者突变所在位置

    Figure  3.  ATP7B structure and mutation location of patients

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出版历程
  • 收稿日期:  2021-07-29
  • 录用日期:  2021-11-10
  • 出版日期:  2022-07-20
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