Aug 2026
Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.
Based on the extensive province-wide, multi-center cohort, LNA-qPCR combined with full-length SMN1 sequencing is proven to be an accurate and efficient strategy for population-level SMA carrier screening.
Qingxin Shi, Jing Liu, Jianyan Pan et al.
· Clinica chimica acta; intern... · 0 citations