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Article

Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing.

The Journal of molecular diagnostics : JMD - 1 Sept 2022

Li Shuyuan, Han Xu, Xu Yan, Chang Chunxin, Gao Li, Li Jiaqi, Lu Yulin, Mao Aiping, Wang Yanlin

Abstract excerpt

Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by the American College of Medical Genetics and Genomics. However, the methods used currently mainly focus on SMN1 copy number and fail to identify carriers with pathogenic intragenic mutations and silent (2 + 0) carriers. We developed a method termed comprehensive analysis of SMA (CASMA) based on long-range PCR and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35659528
DOI: 10.1016/j.jmoldx.2022.05.001

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

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