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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Yasuhito Aoki

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Open access Aug 2026

A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder caused predominantly by homozygous deletion of SMN1, resulting in degeneration of lower motor neurons and progressive muscle weakness and atrophy. In recent years, newborn screening programs for SMA using dried blood spots and PCR-based...

Ayano Kosaka, Makoto Sakima, Yoriko Noguchi et al. · 0 citations
Open access Aug 2026

Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control

Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NBS assay. Dried blood spot specimens collected from 21 newborns and thr...

Yuichi Abe, Sato Suzuki-Muromoto, M. Kosuga et al. · 0 citations

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