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[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2024

Yang Tingting, Guo Caiqin, Fang Danfeng, Liu Yi, Yu Yongguo

Abstract excerpt

OBJECTIVE: To assess the application value of CNVPLUS-array for the genetic analysis of Spinal muscular atrophy (SMA). METHODS: From June 2021 to December 2022, CNVPLUS-array technique was employed to test the SMN1 and SMN2 genes among peripheral blood samples from 17 suspected SMA patients, 18 core families with suspected SMA, and 25 healthy individuals. The results were compared with those of multiple...

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PMID: 39217494
DOI: 10.3760/cma.j.cn511374-20240320-00182

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