Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study
Authors
- Kayoko Saito (ORCID: https://orcid.org/0000-0003-2632-0873)
- Tamaki Kato (ORCID: https://orcid.org/0000-0002-0148-2510)
- Kensuke Matsuo
- Yuji Kubo (ORCID: https://orcid.org/0000-0003-0113-672X)
- Mamoru Yokomura
- Yutaka Osawa
- Tomoo Homma
Institutions
- Kawasaki Medical School (JP)
- Japan Bio Products (Japan) (JP)
- Tokyo Women's Medical University (JP)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1186/s13023-025-03568-9
- Citations
- 4
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 6.50