Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: Simultaneous detection of SMN1 and SMN2 deletion

Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene. Approximately 94% of SMA patients carry homologous dele...

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Veröffentlicht in:Molecular and cellular probes 2010-06, Vol.24 (3), p.138-141
Hauptverfasser: Baris, Ibrahim, Etlik, Ozdal, Koksal, Vedat, Arican-Baris, S. Tugba
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Sprache:eng
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