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...

Descripción completa

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

Internet

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

Ejemplares similares