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

• Main Authors: Zhiwei Huang (Author), Qingchan Yang (Author), Jianxiang Ye (Author), Jianxing Huang (Author), Jin Lin (Author), Jing Chen (Author), Zizhao Liang (Author), Zijie Cao (Author)
• Format: Book
• Published: BMC, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...