High-throughput screening reveals novel mutations in spinal muscular atrophy patients

ConclusionsWe identified some mutations in bothSMN1 and other genes, and c.[271C > T], c.[−41_-40insCTCT], c.[1001A > G] and c.[−117A > G] might be associated with the onset of SMA.

http://link.springer.com/10.1186/s13052-020-00925-1

Source: Italian Journal of Pediatrics - November 4, 2020 Category: Pediatrics Source Type: research