Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
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DOI: 10.1007/s00439-019-01983-0
Abstract: Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the… read more here.
Keywords: sequencing smn2; deletion; gene; sma patients ... See more keywords