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.

Ahmet Cevdet CeylanHaktan Bağış Erdemİbrahim ŞahinMeenal Agarwal

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

The 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.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
single cell
rna seq
gene expression
loop mediated isothermal amplification
real time pcr
label free
quantum dots
solid state