SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype

ConclusionThe results of this study support the notion that CODE-SEQ will be extremely useful in detecting SMA genotypes in large-scale population-based screening studies.

http://link.springer.com/10.1007/s10072-020-04365-x

Source: Neurological Sciences - April 5, 2020 Category: Neurology Source Type: research