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Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay

OBJECTIVE: This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex digital PCR (dPCR) for identifying fetuses at increased risk of 22q11.2 deletion/duplication syndrome. METHODS: Six detection sites and their corresponding probes were designed for the 22q11.2 recurrent reg...

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Detalles Bibliográficos
Autores principales:	Wang, Jing, Wang, Wei, Zhou, Wenbo, Zhou, Yan, Zhou, Linna, Wang, Xinyue, Yu, Bin, Zhang, Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486099/ https://www.ncbi.nlm.nih.gov/pubmed/37684689 http://dx.doi.org/10.1186/s13023-023-02903-2

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