Steven F Dobrowolski
Affiliation: University of Pittsburgh
- Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profilingSteven 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...