二代测序技术在先天性骨髓衰竭综合征诊断中的合理应用与结果分析

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二代测序技术在先天性骨髓衰竭综合征诊断中的合理应用与结果分析

文章导航 > 临床血液学杂志 > 2020 > 33(11): 746-748

竺晓凡. 二代测序技术在先天性骨髓衰竭综合征诊断中的合理应用与结果分析[J]. 临床血液学杂志, 2020, 33(11): 746-748. doi: 10.13201/j.issn.1004-2806.2020.11.003

引用本文:

竺晓凡. 二代测序技术在先天性骨髓衰竭综合征诊断中的合理应用与结果分析[J]. 临床血液学杂志, 2020, 33(11): 746-748. doi: 10.13201/j.issn.1004-2806.2020.11.003

ZHU Xiao-fan. Rational application and result analysis of second generation sequencing technology in diagnosis of inherited bone marrow failure syndrome[J]. J Clin Hematol, 2020, 33(11): 746-748. doi: 10.13201/j.issn.1004-2806.2020.11.003

Citation:

ZHU Xiao-fan. Rational application and result analysis of second generation sequencing technology in diagnosis of inherited bone marrow failure syndrome[J]. J Clin Hematol, 2020, 33(11): 746-748. doi: 10.13201/j.issn.1004-2806.2020.11.003

二代测序技术在先天性骨髓衰竭综合征诊断中的合理应用与结果分析

竺晓凡^,

- 中国医学科学院血液病医院血液学研究所(天津, 300020)
基金项目:
中国医学科学院医学与健康科技创新工程重大协同创新项目(No:2016-12M-1-002)

详细信息

通讯作者: 竺晓凡,E-mail:xfzhu@ihcams.ac.cn

中图分类号: R555.1

收稿日期: 2020-09-29

Rational application and result analysis of second generation sequencing technology in diagnosis of inherited bone marrow failure syndrome

ZHU Xiao-fan^,

More Information

Corresponding author: ZHU Xiao-fan, E-mail: xfzhu@ihcams.ac.cn

Received Date: 29 September 2020

- 先天性骨髓衰竭综合征 /
- 二代测序 /
- 诊断
- inherited bone marrow failure syndromes /
- next generation sequencing /
- diagnosis

参考文献(7)

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[7]	常丽贤,任媛媛,杨文钰,等.范可尼贫血患者临床转归与基因突变关系分析[J].中国当代儿科杂志,2016,18(8):742-745.

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