同卵双胎纯合突变肝豆状核变性一家系报告

高宪梅; 于晓晓; 于臻; 张琳琳; 杨杰

doi:10.3969/j.issn.1001-5256.2022.09.032

同卵双胎纯合突变肝豆状核变性一家系报告

DOI: 10.3969/j.issn.1001-5256.2022.09.032

山东大学齐鲁医院小儿内科，济南 250012

基金项目:

山东省自然科学基金面上项目 (ZR2021MH258)

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：高宪梅负责课题设计，资料分析，撰写论文；于晓晓、于臻、张琳琳参与收集数据，修改论文；杨杰负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
杨杰，yang64662003@163.com

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出版历程
- 收稿日期: 2022-01-13
- 录用日期: 2022-03-29
- 出版日期: 2022-09-20

Homozygous mutation in monozygotic twins in a family with hepatolenticular degeneration

Department of Pediatrics, Qilu Hospital of Shandong University, Jinan 250012, China

Research funding:

General Project of the Natural Science Foundation of Shandong Province (ZR2021MH258)

More Information

Corresponding author: YANG Jie, yang64662003@163.com(ORCID: 0000-0003-3161-2141)

摘要

- 肝豆状核变性 /
- 突变 /
- 双生, 单卵 /
- 早期诊断
- Hepatolenticular Degeneration /
- Mutation /
- Twins, Monozygotic /
- Early Diagnosis

HTML全文

图 1 HLD双胞胎患儿及其生物学父母Sanger测序结果

注：“+/-”表示突变位点为单杂合携带；“-/-”表示突变位点为纯合突变。

Figure 1. Sanger sequencing results of twins with hepatolenticular degenerationand and their biological parents

下载: 全尺寸图片幻灯片

参考文献(18)

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