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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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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 |
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