Author

Jianyan Pan

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Aug 2026

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...

Qingxin Shi, Jing Liu, Jianyan Pan et al. · Clinica chimica acta; intern... · 0 citations