Steven F Dobrowolski

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. doi Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012

Collaborators

Detail Information

Publications1

  1. doi Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012
    ..To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients...