• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage your publications. Semantic Scholar automatically creates author pages based on data aggregated from public sources and our publisher partners.
  • Chalermchai Mitrpant, Paul N Porensky, +5 authors Arthur H. M. Burghes
  • Biology, Medicine
  • PloS one
  • 2013 (First Publication: 22 April 2013)
  • Spinal muscular atrophy (SMA) is caused by loss of the Survival Motor Neuron 1 (SMN1) gene, resulting in reduced SMN protein. Humans possess the additional SMN2 gene (or genes) that does produce lowExpand