The clinical utility of a riskâmodifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
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DOI: 10.1002/mgg3.1897
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of… read more here.
Keywords: spinal muscular; utility risk; muscular atrophy; clinical utility ... See more keywords