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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)...

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Detalles Bibliográficos
Autores principales: Huang, Zhiwei, Yang, Qingchan, Ye, Jianxiang, Huang, Jianxing, Lin, Jin, Chen, Jing, Liang, Zizhao, Cao, Zijie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
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