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pro vyhledávání: '"Mathew M. Harmelink"'
Autor:
Sandra J. Dawe, Sean T. Mochal, Jennifer M. Kwon, Bethany R. Zeitler, Michael F. Cogley, Amy E. Wiberley-Bradford, Zachary D. Piro, Mathew M. Harmelink, Mei W. Baker
Publikováno v:
Neuromuscular Disorders. 32:135-141
Spinal muscular atrophy was recently added to the Wisconsin newborn screening panel. Here we report our screening methods, algorithm, and outcomes. Methods: A multiplex real-time PCR assay was used to identify newborns with homozygous SMN1 exon 7 del