Articles with "discrepancy redetermination" as a keyword



Photo by nci from unsplash

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Sign Up to like & get
recommendations!
Published in 2019 at "Neurology"

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