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New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

BACKGROUND: Spinal muscular atrophy (SMA) is the most common autosomal recessive disease in children, and the diagnosis is complicated and difficult, especially at early stage. Early diagnosis of SMA is able to improve the outcome of SMA patients. In our study, Real-time PCR was developed to measure...

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Detalles Bibliográficos
Autores principales: Liu, Zhidai, Zhang, Penghui, He, Xiaoyan, Liu, Shan, Tang, Shi, Zhang, Rong, Wang, Xinbin, Tan, Junjie, Peng, Bin, Jiang, Li, Hong, Siqi, Zou, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989483/
https://www.ncbi.nlm.nih.gov/pubmed/27534852
http://dx.doi.org/10.1186/s12883-016-0651-y