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Newborn screening for spinal muscular atrophy with EnLiteTM time resolved fluorescence resonance energy transfer polymerase chain reaction
(2019-03-13)
Spinal muscular atrophy (SMA) is a recessive neurodegenerative disorder, caused by mutations or a deletion in survival motor neuron (SMN) 1, the central gene for production of SMN protein. 95 % of all SMN cases are caused ...