De-Sheng Liang

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

BACKGROUND Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused primarily by biallelic SMN1 loss-of-function mutations, most commonly homozygous deletions of exon 7. While large-scale carrier screening is critical for prevention, comprehensive population-level data remain limited in mai...