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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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 182882694 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Kato%2C+Tamaki%22">Kato, Tamaki</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> kato.tamaki@twmu.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Yokomura%2C+Mamoru%22">Yokomura, Mamoru</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> yokomura.mamoru@twmu.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Osawa%2C+Yutaka%22">Osawa, Yutaka</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> yosawa@med.kawasaki-m.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Matsuo%2C+Kensuke%22">Matsuo, Kensuke</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> kmatsu@koto.kpu-m.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Kubo%2C+Yuji%22">Kubo, Yuji</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> kubo.yuji@twmu.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Homma%2C+Taihei%22">Homma, Taihei</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> taihei.homma@biogen.com</i><br /><searchLink fieldCode="AR" term="%22Saito%2C+Kayoko%22">Saito, Kayoko</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> saito.kayoko@twmu.ac.jp</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=182882694 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03568-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kato, Tamaki – PersonEntity: Name: NameFull: Yokomura, Mamoru – PersonEntity: Name: NameFull: Osawa, Yutaka – PersonEntity: Name: NameFull: Matsuo, Kensuke – PersonEntity: Name: NameFull: Kubo, Yuji – PersonEntity: Name: NameFull: Homma, Taihei – PersonEntity: Name: NameFull: Saito, Kayoko IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 02 Text: 2/7/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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