Article
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
Clinical chemistry - 1 Jan 2015
Lv Weigang, Wei Xianda, Guo Ruolan, Liu Qin, Zheng Yu, Chang Jiazhen, Bai Ting, Li Haoxian, Zhang Jianguang, Song Zhuo, Cram David S, Liang Desheng, Wu Lingqian
Abstract excerpt
BACKGROUND: Noninvasive prenatal testing (NIPT) for monogenic diseases by use of PCR-based strategies requires precise quantification of mutant fetal alleles circulating in the maternal plasma. The study describes the development and validation of a novel assay termed circulating single-molecule amplification and resequencing technology (cSMART) for counting single allelic molecules in plasma. Here we demonstrate...
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