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Article

Analysis of spinal muscular atrophy-like patients by targeted resequencing.

Brain & development - 1 Feb 2020

Hosokawa Shinichi, Kubo Yuji, Arakawa Reiko, Takashima Hiroshi, Saito Kayoko

Abstract excerpt

BACKGROUND: Several effective therapies have been developed for spinal muscular atrophy (SMA), but there are multiple diseases that show SMA-like symptoms, necessitating efficient differential genetic diagnostic methods. Advancements in next-generation sequencing (NGS) technology have facilitated the successful diagnosis of many undiagnosed genetic diseases. Here, we applied NGS along with conventional methods...

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Identifiers

PMID: 31734026
DOI: 10.1016/j.braindev.2019.10.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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