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Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene

Spinal muscular atrophy (SMA) is one of the most common and severe genetic diseases. SMA carrier screening is an effective way to identify couples at risk of having affected children. Next-generation sequencing (NGS)-based expanded carrier screening could detect SMN1 gene copy number without extra e...

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Detalles Bibliográficos
Autores principales:	Zhao, Sumin, Wang, Yaoshen, Xin, Xiuqing, Fang, Zhonghai, Fan, Linlin, Peng, Zhiyu, Han, Rui, Shi, Chaonan, Zhang, Yixiang, Fan, Chuang, Sun, Jun, He, Xuelian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741787/ https://www.ncbi.nlm.nih.gov/pubmed/34997153 http://dx.doi.org/10.1038/s41598-021-04325-1

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