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Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.

The Analyst - 16 Dec 2024

Xing Xiaodong, Ji Xing, Liu Xinzhu, Jin Xiaohui, He Zhenglei, Xu Ajing, Jiang Wengao, Ji Wenbo, Liu Yan, Zhang Jian, Huang Xiaohui

Abstract excerpt

Spinal muscular atrophy (SMA) is a fatal neuromuscular disorder primarily attributed to the homozygous deletion of the survival motor neuron 1 (SMN1) gene, with disease severity closely correlated to the copy number variations (CNV) of SMN2. Conventional methodologies, however, fail to provide a comprehensive gene overview of SMN and are often both time-intensive and costly. In this study, we present a novel...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39584662
DOI: 10.1039/d4an01225a

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Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.PMID 39584662Read ↗

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