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Article

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women.

The Journal of molecular diagnostics : JMD - 1 Jun 2020

Zhang Jingjing, Wang Yuguo, Ma Dingyuan, Sun Yun, Li Yahong, Yang Peiying, Luo Chunyu, Jiang Tao, Hu Ping, Xu Zhengfeng

Abstract excerpt

Spinal muscular atrophy (SMA) is a relatively common, life-shortening, autosomal recessive neuromuscular disease. The carrier frequency of SMA ranges from approximately 0.98% to 2.02%, depending on ethnicity. The American College of Medical Genetics has therefore recommended population screening for SMA carrier status, regardless of race or ethnicity. We performed the largest-scale carrier screening for SMA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32205292
DOI: 10.1016/j.jmoldx.2020.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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