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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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Detalles Bibliográficos
Autores principales:	Lv, Weigang, Liang, Lili, Chen, Xin, Li, Zhuo, Liang, Desheng, Zhu, Huimin, Teng, Yanling, Wu, Weijuan, Wu, Lingqian, Han, Lianshu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8777107/ https://www.ncbi.nlm.nih.gov/pubmed/35069678 http://dx.doi.org/10.3389/fgene.2021.750719

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