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Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
OBJECTIVE: A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA. METHODS: Exons 7 and 8 (E7 and E8) of the survival motor neuron (SMN)...
Autores principales: | Huang, Zhiwei, Yang, Qingchan, Ye, Jianxiang, Huang, Jianxing, Lin, Jin, Chen, Jing, Liang, Zizhao, Cao, Zijie |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976494/ https://www.ncbi.nlm.nih.gov/pubmed/36859245 http://dx.doi.org/10.1186/s12920-023-01468-0 |
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