Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
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| Title: | Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. |
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| Authors: | Ruhno C; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA., McGovern VL; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA., Avenarius MR; Nationwide Children's Hospital, Columbus, OH, USA., Snyder PJ; Department of Pathology, The Ohio State University, Columbus, OH, USA., Prior TW; Department of Pathology, Case Western Reserve Medical Center, Cleveland, OH, USA., Nery FC; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Muhtaseb A; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Roggenbuck JS; Department of Neurology, The Ohio State University, Columbus, OH, USA., Kissel JT; Department of Neurology, The Ohio State University, Columbus, OH, USA., Sansone VA; The NEMO Clinical Center, University of Milan, Milan, Italy., Siranosian JJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Johnstone AJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Nwe PH; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Zhang RZ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Burghes AHM; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA. burghes.1@osu.edu. |
| Source: | Human genetics [Hum Genet] 2019 Mar; Vol. 138 (3), pp. 241-256. Date of Electronic Publication: 2019 Feb 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-019-01983-0 |
