Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use. The clinical feasibility of NIPT for methylmalonic acidemia cblC type (cblC type MMA) was investigated using our...

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Bibliographic Details
Main Authors: Weigang Lv, Lili Liang, Xin Chen, Zhuo Li, Desheng Liang, Huimin Zhu, Yanling Teng, Weijuan Wu, Lingqian Wu, Lianshu Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Genetics
Subjects:
noninvasive prenatal testing
methylmalonic acidemia cblC type
circulating single molecule amplification and re-sequencing technology
monogenic disorder
next-generation sequencing
cell-free DNA
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.750719/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.750719/full

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