Three years pilot of spinal muscular atrophy newborn screening turned into official program in southern belgium

HIGHLIGHTS

• who: François Boemer from the Three new therapies for spinal muscular atrophy (SMA) have been approved by the United StatesUniversity of have published the article: Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium, in the Journal: Scientific Reports Scientific Reports
• how: Over the 3-year pilot study from March 2018 to February 2021 136339 neonates were tested for the SMN1 exon 7 deletion using a previously described qRT-PCR test with fluorescence read-out20. The authors used the Salsa MLPA Probemix P021 SMA diagnostic kit (MRC . . .
  

   

  

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