南方科技大学知识苑(SUSTech KC): Whole-exome sequencing analysis of amniotic ffuid cells in 5 pregnant women with thalassemia Case report

题名	Whole-exome sequencing analysis of amniotic ffuid cells in 5 pregnant women with thalassemia Case report
作者	Wei Zhang1,2,3 ; Xiaokang Li 4; Xiaoxia Wu 5; Xin Huang2 ; Xiao Zhang2 ; Yi Lu2,6 ; Jianmin Niu 5; Jian Zhang2,6
通讯作者	Jian Zhang
共同第一作者	Wei Zhang; Xiaokang Li; Xiaoxia Wu
发表日期	2022-11
DOI	10.1097/MD.0000000000031645
发表期刊	Medicine 影响因子和分区
卷号	101 期号:47
摘要	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.
收录类别	SCI
语种	英语
学校署名	第一 ; 通讯
ESI学科分类	CLINICAL MEDICINE
来源库	人工提交
出版状态	在线出版
引用统计	被引频次[WOS]：0
成果类型	期刊论文
条目标识符	http://sustech.caswiz.com/handle/2SGJ60CL/416248
专题	南方科技大学医学院南方科技大学医学院_公共卫生及应急管理学院
作者单位	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.
第一作者单位	南方科技大学; 南方科技大学医学院
通讯作者单位	南方科技大学医学院
第一作者的第一单位	南方科技大学
推荐引用方式 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).

条目包含的文件
文件名称/大小	文献类型	版本类型	开放类型	使用许可	操作
Whole_exome_sequenci（925KB）	--	--	限制开放	--