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August 1, 2024PLoS ONEOpen Access

A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay

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Authors

MHMasaki HiranoKSKentaro SahashiYIYūki Ichikawa

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Hirano et al. (2024) studied this question.

synapsesocial.com/papers/68e5dc63b6db643587572575https://doi.org/10.1371/journal.pone.0308179
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling2012 · 34 citations
  2. 2A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy2026
  3. 3From validation to application: implementing a cost-effective qPCR assay for presymptomatic and symptomatic SMA diagnosis2025
  4. 4Locked nucleic acid (LNA) based PCR approach for the diagnosis and screening of spinal muscular atrophy2026
  5. 5A rapid LNA-PCR assay from blood lysate without DNA purification for the diagnosis of homozygous SMN1 deletion in spinal muscular atrophy2026