Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Autor: 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.

Publikováno v: Human genetics [Hum Genet] 2019 Mar; Vol. 138 (3), pp. 241-256. Date of Electronic Publication: 2019 Feb 20.