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[Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Zhang Yinhong, Wang Lei, He Jing, Guo Jingjing, Jin Chanchan, Tang Xinhua, Zhang Jinman, Chen Hong, Zhang Jie, Su Jie, Zhu Baosheng

Abstract excerpt

OBJECTIVE: To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32219818
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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