Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province

Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province

Abstract 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...

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Bibliographic Details
Main Authors: Zhiwei Huang, Qingchan Yang, Jianxiang Ye, Jianxing Huang, Jin Lin, Jing Chen, Zizhao Liang, Zijie Cao
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Medical Genomics
Subjects:
Spinal muscular atrophy
SMN1
Carrier screening
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s12920-023-01468-0

Internet

https://doi.org/10.1186/s12920-023-01468-0

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