Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.
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| Title: | Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study. |
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| Authors: | Kato, Tamaki1 (AUTHOR) kato.tamaki@twmu.ac.jp, Yokomura, Mamoru1 (AUTHOR) yokomura.mamoru@twmu.ac.jp, Osawa, Yutaka2 (AUTHOR) yosawa@med.kawasaki-m.ac.jp, Matsuo, Kensuke3 (AUTHOR) kmatsu@koto.kpu-m.ac.jp, Kubo, Yuji1 (AUTHOR) kubo.yuji@twmu.ac.jp, Homma, Taihei4 (AUTHOR) taihei.homma@biogen.com, Saito, Kayoko1 (AUTHOR) saito.kayoko@twmu.ac.jp |
| Source: | Orphanet Journal of Rare Diseases. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17501172 |
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| DOI: | 10.1186/s13023-025-03568-9 |
