Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
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| Title: | Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing. |
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| Authors: | Miller CR; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Fang J; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Snyder P; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Long SE; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Prior TW; Case Western Reserve, Department of Pathology, 10900 Euclid Avenue, Cleveland, OH 44106, USA., Jones D; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Avenarius MR; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA. |
| Source: | Human mutation [Hum Mutat] 2023 Oct 19; Vol. 2023, pp. 6436853. Date of Electronic Publication: 2023 Oct 19 (Print Publication: 2023). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/2023/6436853 |
