Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.
第一作者:
Yuqin,Luo
第一单位:
The Department of Obstetrics and Gynecology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
作者:
医学主题词
非整倍性(Aneuploidy);染色体障碍(Chromosome Disorders);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);遗传性疾病, 先天性(Genetic Diseases, Inborn);基因检测(Genetic Testing);人类(Humans);突变(Mutation);试点项目(Pilot Projects);妊娠(Pregnancy);产前诊断(Prenatal Diagnosis);敏感性与特异性(Sensitivity and Specificity);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1002/mgg3.597
PMID
30767419
发布时间
2021-01-09
- 浏览15
Molecular genetics & genomic medicine
2019年7卷4期
e00597页
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