Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument

Digital PCR (dPCR) technology has been proven to be highly sensitive and accurate in detecting copy number variations (CNV). However, a higher-order multiplexing dPCR assay for measuring SMN1 and SMN2 copy numbers in spinal muscular atrophy (SMA) samples has not been reported. Described here is a ra...

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Detalles Bibliográficos
Autores principales: Jiang, Lingxia, Lin, Robert, Gallagher, Steve, Zayac, Andrew, Butchbach, Matthew E. R., Hung, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670453/
https://www.ncbi.nlm.nih.gov/pubmed/33199817
http://dx.doi.org/10.1038/s41598-020-76893-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670453/
https://www.ncbi.nlm.nih.gov/pubmed/33199817
http://dx.doi.org/10.1038/s41598-020-76893-7

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