中文版 | English
Title

Whole-exome sequencing analysis of amniotic ffuid cells in 5 pregnant women with thalassemia Case report

Author
Corresponding AuthorJian Zhang
Joint first authorWei Zhang; Xiaokang Li; Xiaoxia Wu
Publication Years
2022-11
DOI
Source Title
Volume101Issue:47
Abstract

While thalassemia is a monogenic disease that is relatively common worldwide, there is no recognized radical cure for thalassemia in current medical practice. Prenatal diagnosis is the most important contribution to thalassemia prevention, but due to its technical limitations, rare thalassemia mutations cannot be detected; and the birth of thalassemic babies cannot be completely circumvented. Whole-exome sequencing can, however, compensate for this shortcoming.

Indexed By
Language
English
SUSTech Authorship
First ; Corresponding
Data Source
人工提交
Publication Status
在线出版
Citation statistics
Cited Times [WOS]:0
Document TypeJournal Article
Identifierhttp://kc.sustech.edu.cn/handle/2SGJ60CL/416248
DepartmentSchool of Medicine
南方科技大学医学院_公共卫生及应急管理学院
Affiliation
1.Shenzhen Key Laboratory of Cardiovascular Health and Precision Medicine, Southern University of Science and Technology, Shenzhen, Guangdong, China,
2.School of Medicine, Southern University of Science and Technology; Shenzhen, Guangdong 518055, China.
3.School of Public Health and Emergency Management, Southern University of Science and Technology, Shenzhen, Guangdong, China
4.Shenzhen Jinxin Medical Technology Innovation Center, Co., Ltd., Shenzhen, Guangdong,
5.Afffliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China,
6.Guangdong Provincial Key Laboratory of Cell Microenvironment and Disease Research, Shenzhen, Guangdong, China.
First Author AffilicationSouthern University of Science and Technology;  School of Medicine
Corresponding Author AffilicationSchool of Medicine
First Author's First AffilicationSouthern University of Science and Technology
Recommended Citation
GB/T 7714
Wei Zhang,Xiaokang Li,Xiaoxia Wu,et al. Whole-exome sequencing analysis of amniotic ffuid cells in 5 pregnant women with thalassemia Case report[J]. Medicine,2022,101(47).
APA
Wei Zhang.,Xiaokang Li.,Xiaoxia Wu.,Xin Huang.,Xiao Zhang.,...&Jian Zhang.(2022).Whole-exome sequencing analysis of amniotic ffuid cells in 5 pregnant women with thalassemia Case report.Medicine,101(47).
MLA
Wei Zhang,et al."Whole-exome sequencing analysis of amniotic ffuid cells in 5 pregnant women with thalassemia Case report".Medicine 101.47(2022).
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