Discrepancy in redetermination of SMN2 copy numbers in children with SMA
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DOI: 10.1212/wnl.0000000000007836
Abstract: Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with an incidence of about 1:6,000 to 1:10,000 in newborns. The clinical spectrum of severity is broad and ranges from early and severe… read more here.
Keywords: discrepancy redetermination; smn protein; copy; smn2 copy ... See more keywords